![]()
Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GRIK3 | Human | lung small cell carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:22941189 | |
|
![]()
Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GRIK3 | Human | lung small cell carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:22941189 | |
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7719709 | PMID:8128318 | PMID:8163463 | PMID:9144652 | PMID:9466455 | PMID:10737800 | PMID:11124978 | PMID:11943148 | PMID:11986986 | PMID:15094479 | PMID:15897672 | PMID:16314883 |
PMID:16325263 | PMID:16356644 | PMID:16958029 | PMID:17213182 | PMID:18423838 | PMID:19022628 | PMID:19086053 | PMID:19125103 | PMID:19221446 | PMID:19320626 | PMID:19342380 | PMID:19921975 |
PMID:19995671 | PMID:20052609 | PMID:20379614 | PMID:20859245 | PMID:20951142 | PMID:21873635 | PMID:22232963 | PMID:23006490 | PMID:23894747 | PMID:24449200 | PMID:26354767 | PMID:28005267 |
PMID:28631555 | PMID:29058671 | PMID:30021884 | PMID:30977227 | PMID:34127015 |
GRIK3 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Grik3 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Grik3 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Grik3 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
GRIK3 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
GRIK3 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Grik3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
GRIK3 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
GRIK3 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Grik3 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in GRIK3
75 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_000831.3(GRIK3):c.115+27720C>T | single nucleotide variant | Lung cancer [RCV000090819] | Chr1:37006274 [GRCh38] Chr1:37471875 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.3(GRIK3):c.115+20141C>T | single nucleotide variant | Lung cancer [RCV000090820] | Chr1:37013853 [GRCh38] Chr1:37479454 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.694G>A (p.Asp232Asn) | single nucleotide variant | not provided [RCV001090924] | Chr1:36872226 [GRCh38] Chr1:37337827 [GRCh37] Chr1:37110414 [NCBI36] Chr1:1p34.3 |
uncertain significance|not provided |
NM_000831.3(GRIK3):c.123C>T (p.Ile41=) | single nucleotide variant | Malignant melanoma [RCV000060188] | Chr1:36891089 [GRCh38] Chr1:37356690 [GRCh37] Chr1:37129277 [NCBI36] Chr1:1p34.3 |
not provided |
GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4 | copy number gain | See cases [RCV000138892] | Chr1:35934217..36821999 [GRCh38] Chr1:36399818..37287600 [GRCh37] Chr1:36172405..37060187 [NCBI36] Chr1:1p34.3 |
likely pathogenic |
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 | copy number gain | See cases [RCV000138891] | Chr1:24381206..41401517 [GRCh38] Chr1:24707696..41886350 [GRCh37] Chr1:24580283..41658937 [NCBI36] Chr1:1p36.11-34.2 |
pathogenic |
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 | copy number loss | not provided [RCV000762767] | Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12 |
likely benign |
NM_000831.4(GRIK3):c.1268G>A (p.Arg423Gln) | single nucleotide variant | not provided [RCV004691116]|not specified [RCV000239080] | Chr1:36850369 [GRCh38] Chr1:37315970 [GRCh37] Chr1:1p34.3 |
uncertain significance |
GRCh37/hg19 1p34.3(chr1:37469062-37699272)x1 | copy number loss | See cases [RCV000446231] | Chr1:37469062..37699272 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.2456A>G (p.Gln819Arg) | single nucleotide variant | not specified [RCV000501485] | Chr1:36805096 [GRCh38] Chr1:37270697 [GRCh37] Chr1:1p34.3 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_000831.4(GRIK3):c.2407A>G (p.Ser803Gly) | single nucleotide variant | not specified [RCV004321270] | Chr1:36805145 [GRCh38] Chr1:37270746 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.817C>A (p.Arg273Ser) | single nucleotide variant | not specified [RCV004323883] | Chr1:36859987 [GRCh38] Chr1:37325588 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.331G>A (p.Gly111Ser) | single nucleotide variant | not specified [RCV004332706] | Chr1:36880853 [GRCh38] Chr1:37346454 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NC_000001.10:g.(?_33241563)_(46663513_?)dup | duplication | Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] | Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3 | copy number gain | not provided [RCV000748949] | Chr1:31562164..37421958 [GRCh37] Chr1:1p35.2-34.3 |
pathogenic |
GRCh37/hg19 1p34.3(chr1:37421958-37425742)x1 | copy number loss | not provided [RCV000748958] | Chr1:37421958..37425742 [GRCh37] Chr1:1p34.3 |
benign |
GRCh37/hg19 1p34.3(chr1:37423534-37425364)x1 | copy number loss | not provided [RCV000748959] | Chr1:37423534..37425364 [GRCh37] Chr1:1p34.3 |
benign |
GRCh37/hg19 1p34.3(chr1:37423534-37425742)x1 | copy number loss | not provided [RCV000748960] | Chr1:37423534..37425742 [GRCh37] Chr1:1p34.3 |
benign |
GRCh37/hg19 1p34.3(chr1:37423534-37430266)x1 | copy number loss | not provided [RCV000748961] | Chr1:37423534..37430266 [GRCh37] Chr1:1p34.3 |
benign |
GRCh37/hg19 1p34.3(chr1:37425133-37425511)x1 | copy number loss | not provided [RCV000748962] | Chr1:37425133..37425511 [GRCh37] Chr1:1p34.3 |
benign |
NM_000831.4(GRIK3):c.828C>T (p.Gly276=) | single nucleotide variant | not provided [RCV000905948] | Chr1:36859976 [GRCh38] Chr1:37325577 [GRCh37] Chr1:1p34.3 |
benign |
NM_000831.4(GRIK3):c.2314+8A>T | single nucleotide variant | not provided [RCV000902370] | Chr1:36806096 [GRCh38] Chr1:37271697 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_000831.4(GRIK3):c.453C>T (p.Asn151=) | single nucleotide variant | not provided [RCV000969134] | Chr1:36880731 [GRCh38] Chr1:37346332 [GRCh37] Chr1:1p34.3 |
benign |
NM_000831.4(GRIK3):c.1105-4G>A | single nucleotide variant | not provided [RCV000883646] | Chr1:36853726 [GRCh38] Chr1:37319327 [GRCh37] Chr1:1p34.3 |
benign |
NM_000831.4(GRIK3):c.129G>A (p.Glu43=) | single nucleotide variant | not provided [RCV000895697] | Chr1:36891083 [GRCh38] Chr1:37356684 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_000831.4(GRIK3):c.189T>C (p.Ser63=) | single nucleotide variant | not provided [RCV000918299] | Chr1:36891023 [GRCh38] Chr1:37356624 [GRCh37] Chr1:1p34.3 |
likely benign |
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 | copy number gain | Global developmental delay [RCV000787285] | Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1 |
uncertain significance |
NM_000831.4(GRIK3):c.807G>A (p.Leu269=) | single nucleotide variant | not provided [RCV000958450] | Chr1:36859997 [GRCh38] Chr1:37325598 [GRCh37] Chr1:1p34.3 |
benign |
NM_000831.4(GRIK3):c.562C>T (p.Leu188=) | single nucleotide variant | not provided [RCV000955147] | Chr1:36872358 [GRCh38] Chr1:37337959 [GRCh37] Chr1:1p34.3 |
benign |
NM_000831.4(GRIK3):c.879G>A (p.Ser293=) | single nucleotide variant | not provided [RCV000907810] | Chr1:36859925 [GRCh38] Chr1:37325526 [GRCh37] Chr1:1p34.3 |
benign |
NM_000831.4(GRIK3):c.468C>T (p.Tyr156=) | single nucleotide variant | not provided [RCV000912816] | Chr1:36880716 [GRCh38] Chr1:37346317 [GRCh37] Chr1:1p34.3 |
benign |
NM_000831.4(GRIK3):c.84C>A (p.Asp28Glu) | single nucleotide variant | not provided [RCV000912421] | Chr1:37034025 [GRCh38] Chr1:37499626 [GRCh37] Chr1:1p34.3 |
benign |
NM_000831.4(GRIK3):c.1410A>G (p.Leu470=) | single nucleotide variant | not provided [RCV000890747] | Chr1:36841856 [GRCh38] Chr1:37307457 [GRCh37] Chr1:1p34.3 |
benign |
NC_000001.10:g.(?_33241563)_(46663513_?)dup | duplication | Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] | Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1 |
uncertain significance |
GRCh37/hg19 1p34.3(chr1:36041366-39112237) | copy number loss | not specified [RCV002053236] | Chr1:36041366..39112237 [GRCh37] Chr1:1p34.3 |
uncertain significance |
GRCh37/hg19 1p34.3(chr1:37469062-37699272) | copy number loss | not specified [RCV002053247] | Chr1:37469062..37699272 [GRCh37] Chr1:1p34.3 |
uncertain significance |
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) | copy number gain | not specified [RCV002052781] | Chr1:33285582..47891811 [GRCh37] Chr1:1p35.1-33 |
pathogenic |
GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1 | copy number loss | not provided [RCV002474552] | Chr1:35104233..37357913 [GRCh37] Chr1:1p34.3 |
pathogenic |
NM_000831.4(GRIK3):c.1985C>T (p.Thr662Ile) | single nucleotide variant | not specified [RCV004086136] | Chr1:36817166 [GRCh38] Chr1:37282767 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.874G>A (p.Val292Ile) | single nucleotide variant | not specified [RCV004142380] | Chr1:36859930 [GRCh38] Chr1:37325531 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.857A>G (p.Asn286Ser) | single nucleotide variant | not specified [RCV004220690] | Chr1:36859947 [GRCh38] Chr1:37325548 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.2191A>G (p.Thr731Ala) | single nucleotide variant | not specified [RCV004130051] | Chr1:36806227 [GRCh38] Chr1:37271828 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.810G>C (p.Glu270Asp) | single nucleotide variant | not specified [RCV004218702] | Chr1:36859994 [GRCh38] Chr1:37325595 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.1987G>A (p.Val663Met) | single nucleotide variant | not specified [RCV004071097] | Chr1:36817164 [GRCh38] Chr1:37282765 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.361G>A (p.Val121Ile) | single nucleotide variant | not specified [RCV004210557] | Chr1:36880823 [GRCh38] Chr1:37346424 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.625A>G (p.Ile209Val) | single nucleotide variant | not specified [RCV004085696] | Chr1:36872295 [GRCh38] Chr1:37337896 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_000831.4(GRIK3):c.2600G>A (p.Arg867His) | single nucleotide variant | not specified [RCV004233048] | Chr1:36802011 [GRCh38] Chr1:37267612 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.1509G>T (p.Met503Ile) | single nucleotide variant | not specified [RCV004264769] | Chr1:36841757 [GRCh38] Chr1:37307358 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.166G>A (p.Glu56Lys) | single nucleotide variant | not specified [RCV004259448] | Chr1:36891046 [GRCh38] Chr1:37356647 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.619C>T (p.Leu207Phe) | single nucleotide variant | not specified [RCV004271509] | Chr1:36872301 [GRCh38] Chr1:37337902 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.1031C>A (p.Thr344Asn) | single nucleotide variant | not specified [RCV004332784] | Chr1:36859181 [GRCh38] Chr1:37324782 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.2567G>A (p.Arg856His) | single nucleotide variant | not specified [RCV004258883] | Chr1:36802044 [GRCh38] Chr1:37267645 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.134C>A (p.Ala45Glu) | single nucleotide variant | not specified [RCV004325792] | Chr1:36891078 [GRCh38] Chr1:37356679 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.1525G>A (p.Asp509Asn) | single nucleotide variant | not specified [RCV004355186] | Chr1:36841741 [GRCh38] Chr1:37307342 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.2402G>A (p.Arg801Gln) | single nucleotide variant | not specified [RCV004355069] | Chr1:36805150 [GRCh38] Chr1:37270751 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.52G>A (p.Gly18Arg) | single nucleotide variant | not specified [RCV004351834] | Chr1:37034057 [GRCh38] Chr1:37499658 [GRCh37] Chr1:1p34.3 |
uncertain significance |
Single allele | inversion | Bilateral polymicrogyria [RCV003459046] | Chr1:33246132..61045156 [GRCh38] Chr1:1p35.1-31.3 |
likely pathogenic |
NM_000831.4(GRIK3):c.1545C>T (p.Ala515=) | single nucleotide variant | not provided [RCV003406353] | Chr1:36825812 [GRCh38] Chr1:37291413 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_000831.4(GRIK3):c.2565+28A>G | single nucleotide variant | not provided [RCV003406351] | Chr1:36804959 [GRCh38] Chr1:37270560 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_000831.4(GRIK3):c.2166C>T (p.Asn722=) | single nucleotide variant | not provided [RCV003406352] | Chr1:36806252 [GRCh38] Chr1:37271853 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_000831.4(GRIK3):c.2329G>A (p.Asp777Asn) | single nucleotide variant | not specified [RCV004393827] | Chr1:36805223 [GRCh38] Chr1:37270824 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.1234G>A (p.Asp412Asn) | single nucleotide variant | not specified [RCV004393823] | Chr1:36850403 [GRCh38] Chr1:37316004 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.2578A>C (p.Ser860Arg) | single nucleotide variant | not specified [RCV004393829] | Chr1:36802033 [GRCh38] Chr1:37267634 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.683G>A (p.Arg228His) | single nucleotide variant | not specified [RCV004393837] | Chr1:36872237 [GRCh38] Chr1:37337838 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.1387G>A (p.Glu463Lys) | single nucleotide variant | not specified [RCV004393824] | Chr1:36841879 [GRCh38] Chr1:37307480 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.1913T>C (p.Ile638Thr) | single nucleotide variant | not specified [RCV004393826] | Chr1:36817238 [GRCh38] Chr1:37282839 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.2590G>A (p.Asp864Asn) | single nucleotide variant | not specified [RCV004393830] | Chr1:36802021 [GRCh38] Chr1:37267622 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.407G>A (p.Arg136His) | single nucleotide variant | not specified [RCV004393833] | Chr1:36880777 [GRCh38] Chr1:37346378 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.614G>A (p.Arg205His) | single nucleotide variant | not specified [RCV004393835] | Chr1:36872306 [GRCh38] Chr1:37337907 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.17G>A (p.Arg6Gln) | single nucleotide variant | not specified [RCV004393825] | Chr1:37034092 [GRCh38] Chr1:37499693 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.2389G>A (p.Glu797Lys) | single nucleotide variant | not specified [RCV004393828] | Chr1:36805163 [GRCh38] Chr1:37270764 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.2671G>A (p.Val891Ile) | single nucleotide variant | not specified [RCV004393832] | Chr1:36801940 [GRCh38] Chr1:37267541 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.926G>A (p.Arg309Gln) | single nucleotide variant | not specified [RCV004393838] | Chr1:36859878 [GRCh38] Chr1:37325479 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.25C>G (p.Arg9Gly) | single nucleotide variant | not specified [RCV004393831] | Chr1:37034084 [GRCh38] Chr1:37499685 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.463G>A (p.Asp155Asn) | single nucleotide variant | not specified [RCV004393834] | Chr1:36880721 [GRCh38] Chr1:37346322 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.72C>G (p.Phe24Leu) | single nucleotide variant | not specified [RCV004634792] | Chr1:37034037 [GRCh38] Chr1:37499638 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.2546A>G (p.Lys849Arg) | single nucleotide variant | not specified [RCV004634793] | Chr1:36805006 [GRCh38] Chr1:37270607 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.2324A>T (p.Tyr775Phe) | single nucleotide variant | not specified [RCV004624038] | Chr1:36805228 [GRCh38] Chr1:37270829 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.829G>A (p.Val277Met) | single nucleotide variant | not specified [RCV004634790] | Chr1:36859975 [GRCh38] Chr1:37325576 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.1804G>A (p.Glu602Lys) | single nucleotide variant | not specified [RCV004634791] | Chr1:36819805 [GRCh38] Chr1:37285406 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.487A>G (p.Ile163Val) | single nucleotide variant | not specified [RCV004634794] | Chr1:36880697 [GRCh38] Chr1:37346298 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_000831.4(GRIK3):c.1382G>A (p.Arg461Gln) | single nucleotide variant | not specified [RCV004344307] | Chr1:36841884 [GRCh38] Chr1:37307485 [GRCh37] Chr1:1p34.3 |
uncertain significance |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
D1S472 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
G15720 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-74612 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AL034266 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH103118 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
G59361 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D1S1444 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D11S4066 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-143130 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-112050 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
GRIK3_966 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH79120 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AL010015 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AL009961 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-31550 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D1S472 |
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1200 | 2300 | 2778 | 2211 | 4834 | 1505 | 1933 | 420 | 1311 | 258 | 2209 | 6224 | 5775 | 24 | 3656 | 737 | 1617 | 1408 | 162 |
RefSeq Transcripts | NG_011447 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_000831 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC117945 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AJ249210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ299451 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ308525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ308526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL355386 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL591883 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW898512 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG057125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG818719 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI544689 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ446793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DR003075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DT217951 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S69349 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U16127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U16128 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000373091 ⟹ ENSP00000362183 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000373093 ⟹ ENSP00000362185 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000462621 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000479620 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_000831 ⟹ NP_000822 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_000822 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAB30157 | (Get FASTA) | NCBI Sequence Viewer |
AAB60407 | (Get FASTA) | NCBI Sequence Viewer | |
AAC50421 | (Get FASTA) | NCBI Sequence Viewer | |
CAC40655 | (Get FASTA) | NCBI Sequence Viewer | |
CAC40656 | (Get FASTA) | NCBI Sequence Viewer | |
CAC40657 | (Get FASTA) | NCBI Sequence Viewer | |
CAC44965 | (Get FASTA) | NCBI Sequence Viewer | |
CAC80548 | (Get FASTA) | NCBI Sequence Viewer | |
EAX07350 | (Get FASTA) | NCBI Sequence Viewer | |
EAX07351 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000362183 | ||
ENSP00000362183.3 | |||
ENSP00000362185.4 | |||
GenBank Protein | Q13003 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_000822 ⟸ NM_000831 |
- Peptide Label: | precursor |
- UniProtKB: | Q13003 (UniProtKB/Swiss-Prot), Q13004 (UniProtKB/Swiss-Prot), B1AMS6 (UniProtKB/Swiss-Prot), A9Z1Z8 (UniProtKB/Swiss-Prot), Q16136 (UniProtKB/Swiss-Prot), Q96QG5 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000362183 ⟸ ENST00000373091 |
Ensembl Acc Id: | ENSP00000362185 ⟸ ENST00000373093 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q13003-F1-model_v2 | AlphaFold | Q13003 | 1-919 | view protein structure |
RGD ID: | 6855000 | ||||||||
Promoter ID: | EPDNEW_H664 | ||||||||
Type: | initiation region | ||||||||
Name: | GRIK3_1 | ||||||||
Description: | glutamate ionotropic receptor kainate type subunit 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:4581 | AgrOrtholog |
COSMIC | GRIK3 | COSMIC |
Ensembl Genes | ENSG00000163873 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000373091 | ENTREZGENE |
ENST00000373091.8 | UniProtKB/Swiss-Prot | |
ENST00000373093.4 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.287.70 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.40.50.2300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Periplasmic binding protein-like II | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000163873 | GTEx |
HGNC ID | HGNC:4581 | ENTREZGENE |
Human Proteome Map | GRIK3 | Human Proteome Map |
InterPro | ANF_lig-bd_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Glu/Gly-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Iono_rcpt_met | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ionotropic_Glu_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Iontro_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Peripla_BP_I | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:2899 | UniProtKB/Swiss-Prot |
NCBI Gene | 2899 | ENTREZGENE |
OMIM | 138243 | OMIM |
PANTHER | IONOTROPIC GLUTAMATE RECEPTOR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | ANF_receptor | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Lig_chan | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Lig_chan-Glu_bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA28975 | PharmGKB |
PRINTS | NMDARECEPTOR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | Lig_chan-Glu_bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PBPe | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | Periplasmic binding protein-like II | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF53822 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A9Z1Z8 | ENTREZGENE |
B1AMS6 | ENTREZGENE | |
GRIK3_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q13004 | ENTREZGENE | |
Q16136 | ENTREZGENE | |
Q96QG5 | ENTREZGENE, UniProtKB/TrEMBL | |
Q96SC0_HUMAN | UniProtKB/TrEMBL | |
Q96SC1_HUMAN | UniProtKB/TrEMBL | |
Q96SC2_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | A9Z1Z8 | UniProtKB/Swiss-Prot |
B1AMS6 | UniProtKB/Swiss-Prot | |
Q13004 | UniProtKB/Swiss-Prot | |
Q16136 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-10 | GRIK3 | glutamate ionotropic receptor kainate type subunit 3 | GRIK3 | glutamate receptor, ionotropic, kainate 3 | Symbol and/or name change | 5135510 | APPROVED |