SCARA3 (scavenger receptor class A member 3) - Rat Genome Database

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Gene: SCARA3 (scavenger receptor class A member 3) Homo sapiens
Analyze
Symbol: SCARA3
Name: scavenger receptor class A member 3
RGD ID: 1319520
HGNC Page HGNC:19000
Description: Predicted to enable scavenger receptor activity. Predicted to be involved in UV protection and response to oxidative stress. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: APC7; cellular stress response gene protein; cellular stress response protein; CSR; CSR1; macrophage scavenger receptor-like 1; MSLR1; MSRL1; scavenger receptor class A, member 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38827,633,463 - 27,734,141 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl827,633,868 - 27,676,776 (+)EnsemblGRCh38hg38GRCh38
GRCh37827,491,419 - 27,534,288 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,547,496 - 27,590,205 (+)NCBINCBI36Build 36hg18NCBI36
Build 34827,547,495 - 27,590,205NCBI
Celera826,451,665 - 26,494,373 (+)NCBICelera
Cytogenetic Map8p21.1NCBI
HuRef826,036,621 - 26,079,326 (+)NCBIHuRef
CHM1_1827,693,466 - 27,736,166 (+)NCBICHM1_1
T2T-CHM13v2.0827,910,729 - 28,013,971 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
amphetamine  (ISO)
arsenous acid  (EXP)
avobenzone  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
cerium trichloride  (EXP)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
Cuprizon  (ISO)
dexamethasone  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
disodium selenite  (EXP)
dorsomorphin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fipronil  (ISO)
folic acid  (ISO)
furan  (ISO)
glycidol  (ISO)
hydroquinone  (EXP)
indometacin  (EXP)
inulin  (ISO)
isobutanol  (EXP)
ketamine  (ISO)
L-methionine  (ISO)
lanthanum trichloride  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
N-nitrosodiethylamine  (ISO)
paracetamol  (ISO)
paraquat  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP)
quercetin  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sulforaphane  (ISO)
temozolomide  (EXP)
testosterone  (EXP,ISO)
thapsigargin  (EXP,ISO)
titanium dioxide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
zinc atom  (EXP)
zinc dichloride  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9580669   PMID:9747040   PMID:12477932   PMID:15489334   PMID:16436673   PMID:17207965   PMID:18806823   PMID:20485444   PMID:21516116   PMID:21855113   PMID:21873635   PMID:22138034  
PMID:22658674   PMID:22683311   PMID:23537707   PMID:23728617   PMID:24491563   PMID:24623722   PMID:25204797   PMID:25416956   PMID:25956032   PMID:26167880   PMID:26186194   PMID:27148859  
PMID:28514442   PMID:28611215   PMID:28975986   PMID:29705808   PMID:31577778   PMID:32814053   PMID:33318306   PMID:33545068   PMID:33961781   PMID:34079125   PMID:34586953   PMID:35578316  
PMID:35696571   PMID:35748872   PMID:37774976  


Genomics

Comparative Map Data
SCARA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38827,633,463 - 27,734,141 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl827,633,868 - 27,676,776 (+)EnsemblGRCh38hg38GRCh38
GRCh37827,491,419 - 27,534,288 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,547,496 - 27,590,205 (+)NCBINCBI36Build 36hg18NCBI36
Build 34827,547,495 - 27,590,205NCBI
Celera826,451,665 - 26,494,373 (+)NCBICelera
Cytogenetic Map8p21.1NCBI
HuRef826,036,621 - 26,079,326 (+)NCBIHuRef
CHM1_1827,693,466 - 27,736,166 (+)NCBICHM1_1
T2T-CHM13v2.0827,910,729 - 28,013,971 (+)NCBIT2T-CHM13v2.0
Scara3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391466,156,844 - 66,191,427 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1466,156,843 - 66,191,384 (-)EnsemblGRCm39 Ensembl
GRCm381465,919,394 - 65,953,978 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1465,919,394 - 65,953,935 (-)EnsemblGRCm38mm10GRCm38
MGSCv371466,538,232 - 66,572,581 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361464,873,505 - 64,907,854 (-)NCBIMGSCv36mm8
Celera1463,672,278 - 63,706,586 (-)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1434.36NCBI
Scara3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81544,315,422 - 44,348,416 (-)NCBIGRCr8
mRatBN7.21540,139,873 - 40,172,866 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1540,140,161 - 40,172,894 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1542,003,656 - 42,038,124 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01543,153,858 - 43,188,322 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01541,600,182 - 41,633,171 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01542,605,505 - 42,638,409 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1542,605,473 - 42,638,392 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01548,953,960 - 48,986,864 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41545,344,539 - 45,377,576 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11545,360,319 - 45,393,691 (-)NCBI
Celera1539,811,744 - 39,844,508 (-)NCBICelera
Cytogenetic Map15p12NCBI
Scara3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540350,185,037 - 50,226,030 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540350,185,857 - 50,223,340 (+)NCBIChiLan1.0ChiLan1.0
SCARA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2746,164,427 - 46,242,582 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1821,878,654 - 21,975,188 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0826,903,924 - 27,032,048 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1824,106,075 - 24,148,465 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl824,106,075 - 24,148,465 (+)Ensemblpanpan1.1panPan2
SCARA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12529,891,099 - 29,966,846 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2529,917,335 - 29,968,076 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2530,504,063 - 30,553,337 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02530,107,667 - 30,156,993 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2530,107,681 - 30,157,514 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12530,037,969 - 30,087,201 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02529,918,813 - 29,968,236 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02530,085,179 - 30,134,524 (-)NCBIUU_Cfam_GSD_1.0
Scara3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049438,025,043 - 8,050,941 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936675535,210 - 561,119 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936675541,829 - 561,110 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCARA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1411,367,427 - 11,410,978 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11411,367,402 - 11,403,173 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21412,546,504 - 12,582,044 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SCARA3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1825,741,988 - 25,779,224 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl825,742,127 - 25,782,247 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605216,360,511 - 16,399,973 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Scara3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475822,454,213 - 22,488,452 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475822,454,181 - 22,488,431 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SCARA3
57 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12		 pathogenic
NM_016240.2(SCARA3):c.727G>A (p.Glu243Lys) single nucleotide variant Malignant melanoma [RCV000068272] Chr8:27658897 [GRCh38]
Chr8:27516414 [GRCh37]
Chr8:27572333 [NCBI36]
Chr8:8p21.1		 not provided
NM_016240.2(SCARA3):c.857C>T (p.Ser286Phe) single nucleotide variant Malignant melanoma [RCV000061789] Chr8:27659027 [GRCh38]
Chr8:27516544 [GRCh37]
Chr8:27572463 [NCBI36]
Chr8:8p21.1		 not provided
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 copy number loss See cases [RCV000138081] Chr8:25171103..31750600 [GRCh38]
Chr8:25028618..31608116 [GRCh37]
Chr8:25084535..31727658 [NCBI36]
Chr8:8p21.2-12		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12		 pathogenic
GRCh37/hg19 8p21.1-12(chr8:27501662-29342607)x3 copy number gain See cases [RCV000510519] Chr8:27501662..29342607 [GRCh37]
Chr8:8p21.1-12		 uncertain significance
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12		 not provided
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_016240.3(SCARA3):c.337C>G (p.Leu113Val) single nucleotide variant not specified [RCV004330667] Chr8:27658507 [GRCh38]
Chr8:27516024 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.1345C>T (p.Leu449Phe) single nucleotide variant not specified [RCV004308865] Chr8:27659515 [GRCh38]
Chr8:27517032 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.359A>G (p.His120Arg) single nucleotide variant not specified [RCV004281619] Chr8:27658529 [GRCh38]
Chr8:27516046 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_016240.3(SCARA3):c.1012C>T (p.Arg338Cys) single nucleotide variant not specified [RCV004296103] Chr8:27659182 [GRCh38]
Chr8:27516699 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.866G>A (p.Arg289His) single nucleotide variant not specified [RCV004292653] Chr8:27659036 [GRCh38]
Chr8:27516553 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1 copy number loss not provided [RCV002472596] Chr8:26808969..38346383 [GRCh37]
Chr8:8p21.2-11.22		 pathogenic
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1 copy number loss not provided [RCV001006090] Chr8:24305969..28673405 [GRCh37]
Chr8:8p21.2-21.1		 pathogenic
GRCh37/hg19 8p21.1(chr8:27496253-27563222)x1 copy number loss not provided [RCV001259472] Chr8:27496253..27563222 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh37/hg19 8p21.1(chr8:27417421-27643275)x3 copy number gain not provided [RCV001259473] Chr8:27417421..27643275 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NC_000008.10:g.(?_27319146)_(28608383_?)dup duplication Autosomal dominant nocturnal frontal lobe epilepsy [RCV003107941]|not provided [RCV002043387] Chr8:27319146..28608383 [GRCh37]
Chr8:8p21.2-21.1		 uncertain significance|no classifications from unflagged records
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p21.2-12(chr8:27064033-28832392)x3 copy number gain not provided [RCV002472907] Chr8:27064033..28832392 [GRCh37]
Chr8:8p21.2-12		 uncertain significance
NM_016240.3(SCARA3):c.1435G>A (p.Gly479Ser) single nucleotide variant not specified [RCV004237510] Chr8:27670965 [GRCh38]
Chr8:27528482 [GRCh37]
Chr8:8p21.1		 likely benign
NM_016240.3(SCARA3):c.1013G>A (p.Arg338His) single nucleotide variant not specified [RCV004100988] Chr8:27659183 [GRCh38]
Chr8:27516700 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.1019T>C (p.Val340Ala) single nucleotide variant not specified [RCV004246884] Chr8:27659189 [GRCh38]
Chr8:27516706 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.790G>A (p.Gly264Ser) single nucleotide variant not specified [RCV004188863] Chr8:27658960 [GRCh38]
Chr8:27516477 [GRCh37]
Chr8:8p21.1		 likely benign
NM_016240.3(SCARA3):c.43G>A (p.Val15Ile) single nucleotide variant not specified [RCV004104998] Chr8:27649737 [GRCh38]
Chr8:27507254 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.787A>G (p.Ser263Gly) single nucleotide variant not specified [RCV004214289] Chr8:27658957 [GRCh38]
Chr8:27516474 [GRCh37]
Chr8:8p21.1		 likely benign
NM_016240.3(SCARA3):c.1568G>T (p.Gly523Val) single nucleotide variant not specified [RCV004243895] Chr8:27671098 [GRCh38]
Chr8:27528615 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.610C>T (p.Leu204Phe) single nucleotide variant not specified [RCV004113924] Chr8:27658780 [GRCh38]
Chr8:27516297 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.633G>C (p.Gln211His) single nucleotide variant not specified [RCV004142198] Chr8:27658803 [GRCh38]
Chr8:27516320 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.890T>C (p.Met297Thr) single nucleotide variant not specified [RCV004123447] Chr8:27659060 [GRCh38]
Chr8:27516577 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.1501C>A (p.Pro501Thr) single nucleotide variant not specified [RCV004191883] Chr8:27671031 [GRCh38]
Chr8:27528548 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.1666G>T (p.Gly556Trp) single nucleotide variant not specified [RCV004074104] Chr8:27671196 [GRCh38]
Chr8:27528713 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.1078A>G (p.Ile360Val) single nucleotide variant not specified [RCV004195855] Chr8:27659248 [GRCh38]
Chr8:27516765 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.673T>C (p.Phe225Leu) single nucleotide variant not specified [RCV004218264] Chr8:27658843 [GRCh38]
Chr8:27516360 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.1735A>G (p.Met579Val) single nucleotide variant not specified [RCV004207664] Chr8:27671265 [GRCh38]
Chr8:27528782 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.436C>G (p.Gln146Glu) single nucleotide variant not specified [RCV004106556] Chr8:27658606 [GRCh38]
Chr8:27516123 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.83C>T (p.Pro28Leu) single nucleotide variant SCARA3-related disorder [RCV003900906]|not specified [RCV004186390] Chr8:27649777 [GRCh38]
Chr8:27507294 [GRCh37]
Chr8:8p21.1		 likely benign|uncertain significance
NM_016240.3(SCARA3):c.1051G>A (p.Ala351Thr) single nucleotide variant not specified [RCV004141118] Chr8:27659221 [GRCh38]
Chr8:27516738 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.1633C>A (p.Pro545Thr) single nucleotide variant not specified [RCV004193661] Chr8:27671163 [GRCh38]
Chr8:27528680 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.827T>C (p.Val276Ala) single nucleotide variant not specified [RCV004153409] Chr8:27658997 [GRCh38]
Chr8:27516514 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.916G>C (p.Gly306Arg) single nucleotide variant not specified [RCV004182776] Chr8:27659086 [GRCh38]
Chr8:27516603 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.122G>A (p.Arg41His) single nucleotide variant not specified [RCV004175164] Chr8:27651523 [GRCh38]
Chr8:27509040 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.1045C>T (p.Arg349Cys) single nucleotide variant not specified [RCV004222385] Chr8:27659215 [GRCh38]
Chr8:27516732 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.69C>A (p.Asp23Glu) single nucleotide variant not specified [RCV004231033] Chr8:27649763 [GRCh38]
Chr8:27507280 [GRCh37]
Chr8:8p21.1		 likely benign
NM_016240.3(SCARA3):c.22G>A (p.Gly8Ser) single nucleotide variant not specified [RCV004248778] Chr8:27649716 [GRCh38]
Chr8:27507233 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.329C>T (p.Pro110Leu) single nucleotide variant not specified [RCV004257627] Chr8:27658499 [GRCh38]
Chr8:27516016 [GRCh37]
Chr8:8p21.1		 likely benign
NM_016240.3(SCARA3):c.569C>T (p.Ala190Val) single nucleotide variant not specified [RCV004275363] Chr8:27658739 [GRCh38]
Chr8:27516256 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.109C>T (p.Arg37Trp) single nucleotide variant not specified [RCV004300745] Chr8:27651510 [GRCh38]
Chr8:27509027 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12		 pathogenic
NM_016240.3(SCARA3):c.253G>A (p.Glu85Lys) single nucleotide variant not specified [RCV004335975] Chr8:27656808 [GRCh38]
Chr8:27514325 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p21.1(chr8:27406843-27733562)x3 copy number gain not provided [RCV003484731] Chr8:27406843..27733562 [GRCh37]
Chr8:8p21.1		 uncertain significance
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1		 pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1 copy number loss not specified [RCV003986748] Chr8:23754939..30219110 [GRCh37]
Chr8:8p21.2-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1		 pathogenic
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
NM_182826.2(SCARA3):c.1388A>G (p.His463Arg) single nucleotide variant SCARA3-related disorder [RCV003956913]|not provided [RCV004707841] Chr8:27676587 [GRCh38]
Chr8:27534104 [GRCh37]
Chr8:8p21.1		 likely benign
NM_016240.3(SCARA3):c.166C>T (p.Arg56Trp) single nucleotide variant not specified [RCV004452691] Chr8:27651567 [GRCh38]
Chr8:27509084 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.1102G>A (p.Asp368Asn) single nucleotide variant not specified [RCV004452688] Chr8:27659272 [GRCh38]
Chr8:27516789 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.609C>G (p.Asp203Glu) single nucleotide variant not specified [RCV004452692] Chr8:27658779 [GRCh38]
Chr8:27516296 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.796C>T (p.Arg266Cys) single nucleotide variant not specified [RCV004452693] Chr8:27658966 [GRCh38]
Chr8:27516483 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.14C>T (p.Ser5Leu) single nucleotide variant not specified [RCV004658651] Chr8:27649708 [GRCh38]
Chr8:27507225 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.1427C>T (p.Pro476Leu) single nucleotide variant not specified [RCV004452689] Chr8:27670957 [GRCh38]
Chr8:27528474 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.1634C>T (p.Pro545Leu) single nucleotide variant not specified [RCV004452690] Chr8:27671164 [GRCh38]
Chr8:27528681 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.694G>A (p.Glu232Lys) single nucleotide variant not specified [RCV004658654] Chr8:27658864 [GRCh38]
Chr8:27516381 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.377G>A (p.Gly126Glu) single nucleotide variant not specified [RCV004658652] Chr8:27658547 [GRCh38]
Chr8:27516064 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.47C>T (p.Thr16Ile) single nucleotide variant not specified [RCV004658655] Chr8:27649741 [GRCh38]
Chr8:27507258 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.596C>A (p.Thr199Lys) single nucleotide variant not specified [RCV004658650] Chr8:27658766 [GRCh38]
Chr8:27516283 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.421A>G (p.Lys141Glu) single nucleotide variant not specified [RCV004658653] Chr8:27658591 [GRCh38]
Chr8:27516108 [GRCh37]
Chr8:8p21.1		 uncertain significance
NM_016240.3(SCARA3):c.1135G>T (p.Asp379Tyr) single nucleotide variant not specified [RCV004658656] Chr8:27659305 [GRCh38]
Chr8:27516822 [GRCh37]
Chr8:8p21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:941
Count of miRNA genes:637
Interacting mature miRNAs:695
Transcripts:ENST00000301904, ENST00000337221
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human
407180429GWAS829405_Hbody height QTL GWAS829405 (human)8e-08body height (VT:0001253)body height (CMO:0000106)82769119127691192Human
407180424GWAS829400_Hbody height QTL GWAS829400 (human)2e-09body height (VT:0001253)body height (CMO:0000106)82769119127691192Human

Markers in Region
D8S500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,518,282 - 27,518,466UniSTSGRCh37
Build 36827,574,201 - 27,574,385RGDNCBI36
Celera826,478,382 - 26,478,554RGD
Cytogenetic Map8p21UniSTS
HuRef826,063,319 - 26,063,495UniSTS
Marshfield Genetic Map854.98UniSTS
SCARA3_2473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,529,724 - 27,530,560UniSTSGRCh37
Build 36827,585,643 - 27,586,479RGDNCBI36
Celera826,489,810 - 26,490,646RGD
HuRef826,074,764 - 26,075,600UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2419 2788 2235 4954 1721 2325 6 623 1428 465 2250 6785 5963 48 3734 852 1743 1590 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_016240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB007830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ205185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000301904   ⟹   ENSP00000301904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,633,902 - 27,673,018 (+)Ensembl
Ensembl Acc Id: ENST00000337221   ⟹   ENSP00000337985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,633,868 - 27,676,776 (+)Ensembl
RefSeq Acc Id: NM_016240   ⟹   NP_057324
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,633,902 - 27,673,018 (+)NCBI
GRCh37827,491,100 - 27,534,286 (+)NCBI
Build 36827,547,496 - 27,586,456 (+)NCBI Archive
Celera826,451,665 - 26,494,373 (+)RGD
HuRef826,036,621 - 26,079,326 (+)RGD
CHM1_1827,693,466 - 27,732,417 (+)NCBI
T2T-CHM13v2.0827,911,259 - 27,950,398 (+)NCBI
Sequence:
RefSeq Acc Id: NM_182826   ⟹   NP_878185
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,633,902 - 27,676,771 (+)NCBI
GRCh37827,491,100 - 27,534,286 (+)NCBI
Build 36827,547,496 - 27,590,205 (+)NCBI Archive
Celera826,451,665 - 26,494,373 (+)RGD
HuRef826,036,621 - 26,079,326 (+)RGD
CHM1_1827,693,466 - 27,736,166 (+)NCBI
T2T-CHM13v2.0827,911,259 - 27,954,152 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013535   ⟹   XP_016869024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,633,586 - 27,673,018 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013536   ⟹   XP_016869025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,633,902 - 27,734,141 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013537   ⟹   XP_016869026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,633,902 - 27,719,532 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047421850   ⟹   XP_047277806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,633,463 - 27,673,018 (+)NCBI
RefSeq Acc Id: XM_054360629   ⟹   XP_054216604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,910,729 - 27,950,398 (+)NCBI
RefSeq Acc Id: XM_054360630   ⟹   XP_054216605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,910,943 - 27,950,398 (+)NCBI
RefSeq Acc Id: XM_054360631   ⟹   XP_054216606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,911,259 - 28,013,971 (+)NCBI
RefSeq Acc Id: XM_054360632   ⟹   XP_054216607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,911,259 - 27,996,894 (+)NCBI
RefSeq Acc Id: XR_008487851
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,911,259 - 27,975,638 (+)NCBI
RefSeq Acc Id: XR_949419
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,633,902 - 27,698,288 (+)NCBI
Sequence:
RefSeq Acc Id: NP_878185   ⟸   NM_182826
- Peptide Label: isoform 2
- UniProtKB: Q6AZY7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_057324   ⟸   NM_016240
- Peptide Label: isoform 1
- UniProtKB: Q9UM15 (UniProtKB/Swiss-Prot),   Q9UM16 (UniProtKB/Swiss-Prot),   Q6AZY7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869024   ⟸   XM_017013535
- Peptide Label: isoform X1
- UniProtKB: Q9UM15 (UniProtKB/Swiss-Prot),   Q9UM16 (UniProtKB/Swiss-Prot),   Q6AZY7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869025   ⟸   XM_017013536
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016869026   ⟸   XM_017013537
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000337985   ⟸   ENST00000337221
Ensembl Acc Id: ENSP00000301904   ⟸   ENST00000301904
RefSeq Acc Id: XP_047277806   ⟸   XM_047421850
- Peptide Label: isoform X1
- UniProtKB: Q9UM15 (UniProtKB/Swiss-Prot),   Q6AZY7 (UniProtKB/Swiss-Prot),   Q9UM16 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216604   ⟸   XM_054360629
- Peptide Label: isoform X1
- UniProtKB: Q9UM16 (UniProtKB/Swiss-Prot),   Q9UM15 (UniProtKB/Swiss-Prot),   Q6AZY7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216605   ⟸   XM_054360630
- Peptide Label: isoform X1
- UniProtKB: Q9UM16 (UniProtKB/Swiss-Prot),   Q9UM15 (UniProtKB/Swiss-Prot),   Q6AZY7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216606   ⟸   XM_054360631
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216607   ⟸   XM_054360632
- Peptide Label: isoform X3
Protein Domains
Collagen-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6AZY7-F1-model_v2 AlphaFold Q6AZY7 1-606 view protein structure

Promoters
RGD ID:6806677
Promoter ID:HG_KWN:61001
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000337221,   ENST00000397432
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,547,126 - 27,547,626 (+)MPROMDB
RGD ID:7212959
Promoter ID:EPDNEW_H12225
Type:initiation region
Name:SCARA3_2
Description:scavenger receptor class A member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12226  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,633,463 - 27,633,523EPDNEW
RGD ID:7212961
Promoter ID:EPDNEW_H12226
Type:initiation region
Name:SCARA3_1
Description:scavenger receptor class A member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12225  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,633,902 - 27,633,962EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19000 AgrOrtholog
COSMIC SCARA3 COSMIC
Ensembl Genes ENSG00000168077 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000301904 ENTREZGENE
  ENST00000301904.4 UniProtKB/Swiss-Prot
  ENST00000337221 ENTREZGENE
  ENST00000337221.8 UniProtKB/Swiss-Prot
GTEx ENSG00000168077 GTEx
HGNC ID HGNC:19000 ENTREZGENE
Human Proteome Map SCARA3 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot
  Oxidative_Scav/Glycosyltrans UniProtKB/Swiss-Prot
KEGG Report hsa:51435 UniProtKB/Swiss-Prot
NCBI Gene 51435 ENTREZGENE
OMIM 602728 OMIM
PANTHER PHOSPHOLIPASE C-BETA-2-RELATED UniProtKB/Swiss-Prot
  ZF-RING_7 DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
Pfam Collagen UniProtKB/Swiss-Prot
PharmGKB PA38775 PharmGKB
UniProt Q6AZY7 ENTREZGENE
  Q9UM15 ENTREZGENE
  Q9UM16 ENTREZGENE
  SCAR3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q9UM15 UniProtKB/Swiss-Prot
  Q9UM16 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 SCARA3  scavenger receptor class A member 3  SCARA3  scavenger receptor class A, member 3  Symbol and/or name change 5135510 APPROVED