O60883
Gene name |
GPR37L1 (ETBRLP2) |
Protein name |
G-protein coupled receptor 37-like 1 |
Names |
Endothelin B receptor-like protein 2, ETBR-LP-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9283 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for O60883
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O60883-F1 | Predicted | AlphaFoldDB |
436 variants for O60883
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1329934 rs139398911 |
2 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139398911 CA1329933 |
2 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749150035 CA1329931 |
2 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs541324374 CA1329935 |
3 | W>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772725811 CA1329936 |
4 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA344227458 rs1571709431 |
6 | P>A | No |
ClinGen Ensembl |
|
|
rs370527613 CA35466409 |
6 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1571709444 CA344227464 |
7 | L>P | No |
ClinGen Ensembl |
|
|
rs1400520092 CA344227489 |
11 | L>P | No |
ClinGen gnomAD |
|
|
CA35466455 rs976408606 |
16 | A>V | No |
ClinGen Ensembl |
|
|
rs1311221310 CA344227530 |
18 | G>E | No |
ClinGen gnomAD |
|
|
rs758706461 CA1329943 |
18 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1329946 rs147716769 |
20 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1329945 rs747153569 |
20 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1329947 rs377674188 |
21 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571709494 CA344227551 |
22 | V>G | No |
ClinGen Ensembl |
|
|
CA1329949 rs561115649 |
22 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs561115649 CA1329950 |
22 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs267598306 CA35466481 |
24 | G>E | No |
ClinGen Ensembl |
|
|
rs771774196 CA1329952 |
25 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs145080702 CA1329951 |
25 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA344227581 rs770447580 |
28 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 28 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759964243 CA1329957 |
29 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA1329956 rs201014592 |
29 | H>Y | No |
ClinGen 1000Genomes ExAC |
|
|
rs753061610 CA1329959 |
34 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs143016403 CA35466598 |
35 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs369524183 CA344227630 |
36 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369524183 COSM1337879 CA1329961 |
36 | E>K | large_intestine Variant assessed as Somatic; 4.675e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1329962 rs546366311 |
37 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1329963 rs546366311 |
37 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781163292 CA1329964 |
38 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA344227658 rs1354886217 |
40 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344227666 rs1296550711 |
40 | Q>R | No |
ClinGen TOPMed |
|
|
CA1329965 rs750453293 |
42 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs373409302 CA1329966 |
43 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373409302 CA344227713 |
43 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344227722 rs778901003 |
43 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1329967 rs778901003 |
43 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA35466670 rs553879439 |
46 | R>W | No |
ClinGen Ensembl |
|
|
rs747974048 CA1329968 |
47 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 48 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771829131 CA1329969 |
49 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1329970 rs777492681 |
50 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1329971 rs746692737 |
51 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1405764903 CA344227869 |
52 | E>K | No |
ClinGen gnomAD |
|
|
rs776016622 CA1329973 |
53 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759064184 CA1329974 |
54 | K>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 55 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1329976 rs140390018 |
56 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1329977 rs376395326 |
58 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169381888 CA344228010 |
59 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 59 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344228036 rs1441983160 |
61 | P>T | No |
ClinGen gnomAD |
|
|
rs1278122389 CA344228068 |
63 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA344228099 rs1229386614 |
64 | W>* | No |
ClinGen gnomAD |
|
|
rs764564961 CA1329978 |
64 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs370435464 CA1329979 |
65 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1329982 rs750514265 |
66 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA344228188 COSM1127189 rs1230960248 |
68 | P>L | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1329983 rs201065708 |
68 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1329986 rs552502015 |
69 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1219056911 CA1329984 |
69 | R>W | No |
ClinGen TOPMed |
|
|
CA35466744 rs200257132 |
70 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1329987 rs752647832 |
70 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1329989 rs777578390 |
71 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs758268638 CA1329988 |
71 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA344228300 rs1571709710 |
72 | H>P | No |
ClinGen Ensembl |
|
|
rs746759896 CA1329990 |
73 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1276612235 CA344228314 |
74 | A>G | No |
ClinGen TOPMed |
|
|
CA344228311 rs1327345863 |
74 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1327345863 CA344228310 |
74 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA344228319 rs1449134349 |
75 | G>D | No |
ClinGen gnomAD |
|
|
rs756909328 CA1329991 |
77 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA344228341 rs1220598170 |
78 | P>S | No |
ClinGen gnomAD |
|
|
CA1329992 rs780866798 |
79 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs3795594 CA1329993 VAR_047455 |
81 | P>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1329994 rs769333411 |
81 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA344228415 rs3795594 |
81 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3795594 CA344228411 |
81 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1329996 rs749815014 |
83 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA35466774 rs965126149 |
84 | A>D | No |
ClinGen gnomAD |
|
|
CA1329997 rs373957619 |
86 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 87 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344228576 rs1412792519 |
87 | P>T | No |
ClinGen TOPMed |
|
|
CA344228628 rs1195281218 |
89 | P>S | No |
ClinGen gnomAD |
|
|
rs3795595 CA344228652 |
90 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144676177 CA344228644 |
90 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3795595 VAR_047456 CA1330001 |
90 | G>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs144676177 CA1329999 |
90 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144676177 CA1330000 |
90 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA35466840 rs17854616 VAR_047457 |
91 | K>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA344228704 rs1426770371 |
92 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1426770371 CA344228699 |
92 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA344228770 rs1415435388 |
94 | G>D | No |
ClinGen gnomAD |
|
|
rs1571709807 CA344228781 |
95 | T>P | No |
ClinGen Ensembl |
|
|
rs147299257 CA1330002 |
97 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344228837 rs1374237352 |
97 | D>H | No |
ClinGen gnomAD |
|
|
rs766487840 CA1330003 |
98 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA344228921 rs1325946224 |
99 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1325946224 CA344228923 |
99 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1199184380 CA344230369 |
103 | R>K | No |
ClinGen TOPMed |
|
|
CA344230387 rs1319818125 |
104 | G>C | No |
ClinGen TOPMed |
|
|
CA35466856 rs932305623 |
104 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1217734000 CA344230415 |
105 | N>K | No |
ClinGen TOPMed |
|
| rs1345944074 | 105 | N>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs77385011 CA35466857 |
106 | L>M | No |
ClinGen Ensembl |
|
|
CA1330006 rs763997864 |
106 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA344230479 rs1558300619 |
109 | A>G | No |
ClinGen Ensembl |
|
|
CA1330009 rs199819568 |
109 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344230495 rs1262270748 |
110 | P>R | No |
ClinGen gnomAD |
|
|
CA344230507 rs1190345812 |
111 | G>E | No |
ClinGen gnomAD |
|
|
rs890859338 CA35466867 |
111 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs745545701 CA1330010 |
112 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755653579 CA1330011 |
113 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1173477831 CA344230574 |
115 | Q>* | No |
ClinGen gnomAD |
|
|
rs1421845147 CA344230586 COSM902284 |
115 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA344230580 rs1393664714 |
115 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 117 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230316659 CA344230656 |
118 | N>K | No |
ClinGen gnomAD |
|
|
CA1330012 rs779739235 |
119 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332709059 CA344230665 |
119 | P>S | No |
ClinGen TOPMed |
|
|
CA1330014 rs368393555 |
122 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368393555 CA344230732 |
122 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs143588813 CA1330017 |
123 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344230798 rs1241988625 |
125 | E>D | No |
ClinGen TOPMed |
|
|
rs748522786 CA1330019 COSM299676 |
125 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA344230811 rs1558300665 |
126 | S>N | No |
ClinGen Ensembl |
|
|
rs1558300668 CA344230820 |
126 | S>R | No |
ClinGen Ensembl |
|
|
CA1330020 rs772504070 |
129 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs772504070 CA1330021 |
129 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1330022 rs371020139 |
130 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766541854 CA1330023 |
132 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1203606918 CA344230963 |
133 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1330024 rs776742546 |
135 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1330026 rs558628333 |
137 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1330025 rs558628333 |
137 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1032560572 CA35467023 |
142 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755810635 CA1330031 |
146 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1330032 rs758210195 |
148 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437696930 COSM3803468 CA344231267 |
150 | S>L | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA344231306 rs1321908863 |
152 | M>I | No |
ClinGen TOPMed |
|
|
rs1391547715 CA344231348 |
154 | I>N | No |
ClinGen gnomAD |
|
|
rs778513085 CA1330035 |
155 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA344231393 rs1318246970 |
156 | W>* | No |
ClinGen gnomAD |
|
|
CA1330037 rs772421932 |
156 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA344231459 rs1307411352 |
159 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA344231482 rs1236799325 |
160 | Y>* | No |
ClinGen gnomAD |
|
|
CA344231479 rs1335169132 |
160 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 162 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344231519 rs1285825370 |
163 | S>G | No |
ClinGen gnomAD |
|
|
rs778224488 CA1330038 |
163 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778224488 CA1330039 |
163 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776830420 CA1330041 |
164 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776830420 CA1330042 |
164 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458802529 CA344231656 |
171 | S>R | No |
ClinGen gnomAD |
|
|
CA1330043 rs769875162 |
173 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344231692 rs1490254759 |
175 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 176 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344231704 rs1558300726 |
176 | D>Y | No |
ClinGen Ensembl |
|
|
rs946048338 CA35467142 |
179 | V>A | No |
ClinGen TOPMed |
|
|
rs1417629822 CA344231756 |
179 | V>I | No |
ClinGen gnomAD |
|
|
rs1043285712 CA35467145 |
184 | L>F | No |
ClinGen Ensembl |
|
|
CA35467169 rs201945470 |
187 | V>I | No |
ClinGen gnomAD |
|
|
CA1330047 rs375369601 |
188 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402791658 CA344231961 |
190 | N>S | No |
ClinGen gnomAD |
|
|
CA1330049 rs766197024 |
191 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753561712 CA1330050 |
192 | I>F | No |
ClinGen ExAC |
|
|
CA1330051 rs202014773 |
195 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs563639400 CA1330053 |
196 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1330054 rs758994621 |
198 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778113340 CA1330055 |
200 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs973969932 CA35467215 |
200 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA344232134 rs1358069069 |
201 | V>D | No |
ClinGen TOPMed |
|
|
CA1330057 rs532678314 |
201 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373102358 CA1330058 |
204 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147508343 CA1330059 |
204 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762917385 CA344232195 |
205 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1330061 rs376800623 |
205 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1330062 rs762917385 |
205 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1330064 COSM1127188 rs773015725 |
206 | V>M | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA344232257 rs1314468156 |
208 | F>L | No |
ClinGen gnomAD |
|
|
rs997931594 CA35467291 |
209 | M>L | No |
ClinGen gnomAD |
|
|
rs766286719 CA1330066 |
209 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs997931594 CA344232288 |
209 | M>V | No |
ClinGen gnomAD |
|
|
CA35470585 rs902090125 |
211 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1287757644 CA344234724 |
212 | S>C | No |
ClinGen gnomAD |
|
|
CA344234725 rs1287757644 |
212 | S>F | No |
ClinGen gnomAD |
|
|
rs1442641947 CA344234731 |
213 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344234726 rs1484697726 |
213 | S>T | No |
ClinGen TOPMed |
|
|
rs746978054 CA1330082 |
215 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs1370746288 CA344234742 |
216 | V>I | No |
ClinGen gnomAD |
|
|
CA1330083 rs143981483 |
217 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558302187 CA344234770 |
220 | S>N | No |
ClinGen Ensembl |
|
|
rs1259038187 CA344234779 |
221 | L>R | No |
ClinGen gnomAD |
|
|
rs776619571 CA1330084 |
221 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311743691 CA344234785 |
222 | C>F | No |
ClinGen gnomAD |
|
|
rs1489469372 CA344234791 |
223 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 224 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs551560424 CA1330085 |
225 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368701564 CA1330086 |
227 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs565062364 CA1330088 |
228 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344234820 rs1401203532 |
228 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs763515533 CA1330089 |
230 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA344234833 rs1571713020 |
230 | H>P | No |
ClinGen Ensembl |
|
|
CA1330091 rs775034100 |
231 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA344234862 rs1416547590 |
234 | S>R | No |
ClinGen TOPMed |
|
|
rs1022706697 CA35470648 |
237 | P>R | No |
ClinGen Ensembl |
|
|
rs762545189 CA35470643 |
237 | P>T | No |
ClinGen Ensembl |
|
|
CA1330094 rs750823234 |
238 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223723351 CA344234890 |
239 | V>E | No |
ClinGen gnomAD |
|
|
rs969865817 CA344234894 |
240 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA35470656 rs969865817 |
240 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs780376473 CA1330095 |
241 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1330099 rs763751843 |
242 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376572507 CA1330097 COSM1208712 |
242 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA344234909 rs1234390465 |
243 | E>G | No |
ClinGen gnomAD |
|
|
rs547892938 CA1330100 |
243 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1330101 rs547892938 |
243 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146526098 CA344234913 |
244 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369520081 CA1330103 |
244 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1330102 rs146526098 |
244 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs928279517 CA35470681 |
249 | L>V | No |
ClinGen gnomAD |
|
|
rs371689702 CA35470685 |
250 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA344234953 rs1330398940 |
250 | A>V | No |
ClinGen gnomAD |
|
|
rs1355498776 CA344234973 |
253 | A>G | No |
ClinGen gnomAD |
|
|
rs1474511475 CA344234976 |
254 | V>L | No |
ClinGen TOPMed |
|
|
rs904152052 CA35470694 |
255 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1330106 rs768305437 |
257 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344235013 rs1234027497 |
260 | M>L | No |
ClinGen gnomAD |
|
|
CA1330108 rs374873137 |
261 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1571713116 CA344235024 |
261 | T>P | No |
ClinGen Ensembl |
|
|
CA344235030 rs1571713135 |
262 | L>P | No |
ClinGen Ensembl |
|
|
CA344235031 rs1571713135 |
262 | L>R | No |
ClinGen Ensembl |
|
|
rs1216554604 CA344235032 |
263 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1571713144 CA344235042 |
264 | V>G | No |
ClinGen Ensembl |
|
|
rs750912841 CA1330110 |
264 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1438214844 CA344235044 |
265 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 265 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA35470713 rs914510410 |
267 | L>P | No |
ClinGen TOPMed |
|
|
CA344235075 rs1231151613 |
270 | W>* | No |
ClinGen gnomAD |
|
|
rs1571713157 CA344235074 |
270 | W>G | No |
ClinGen Ensembl |
|
|
rs1486602361 CA344235089 |
272 | L>M | No |
ClinGen gnomAD |
|
|
CA344235093 rs1571713171 |
272 | L>R | No |
ClinGen Ensembl |
|
|
rs1188127909 CA344235094 |
273 | A>T | No |
ClinGen gnomAD |
|
|
CA1330111 rs761183427 |
274 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA35470743 rs958885781 |
275 | E>V | No |
ClinGen TOPMed |
|
|
CA1330113 rs766689444 |
276 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1459589660 CA1330114 |
277 | A>T | No |
ClinGen gnomAD |
|
|
rs536616624 CA1330116 |
277 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1353456959 CA344235123 |
278 | P>A | No |
ClinGen TOPMed |
|
|
CA1330117 rs755206179 |
279 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 280 | M>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 281 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344235153 rs1352094996 |
282 | T>N | No |
ClinGen Ensembl |
|
|
CA1330118 rs779249097 |
282 | T>P | No |
ClinGen ExAC |
|
|
rs1377859726 CA344235157 |
283 | L>P | No |
ClinGen gnomAD |
|
|
CA35470792 rs1024544392 |
287 | I>V | No |
ClinGen TOPMed |
|
|
CA1330120 rs758541490 |
288 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA344235201 rs1571713234 |
289 | K>N | No |
ClinGen Ensembl |
|
|
rs1238421521 CA344235198 |
289 | K>T | No |
ClinGen gnomAD |
|
|
CA344235209 rs1312734504 |
291 | S>A | No |
ClinGen gnomAD |
|
|
CA1330121 rs200559622 |
293 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344235233 rs1432928335 |
295 | P>S | No |
ClinGen gnomAD |
|
|
CA344235241 rs1391089854 |
296 | E>A | No |
ClinGen TOPMed |
|
|
CA1330125 rs767987863 |
296 | E>K | Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772639629 CA1330130 |
303 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs771579982 CA1330129 |
303 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571713294 CA344235291 |
304 | T>P | No |
ClinGen Ensembl |
|
|
rs368966314 CA1330131 |
307 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1330134 rs754197349 |
308 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1330133 rs754197349 COSM902289 |
308 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1330135 rs765614906 |
309 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1330136 rs752983537 |
309 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1330137 rs752983537 |
309 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778030980 CA1330138 |
310 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1330139 rs751607627 |
311 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA344235339 rs1289284034 |
311 | W>C | No |
ClinGen Ensembl |
|
|
CA344235353 rs1571713320 |
313 | Y>S | No |
ClinGen Ensembl |
|
|
CA344235365 rs1571713321 |
314 | F>L | No |
ClinGen Ensembl |
|
|
CA1330140 rs201739565 |
316 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 320 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA35470900 rs901814689 |
323 | L>F | No |
ClinGen Ensembl |
|
|
CA1330141 rs780009156 |
326 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA344235440 rs780009156 |
326 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA344235445 rs1571713353 |
327 | T>P | No |
ClinGen Ensembl |
|
|
CA1330142 rs749101816 |
329 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1330143 rs768424757 |
331 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1319049078 CA344235473 |
331 | V>M | No |
ClinGen gnomAD |
|
|
CA1330144 rs778617718 |
332 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344235483 rs1305823394 |
333 | W>G | No |
ClinGen gnomAD |
|
|
CA35470952 rs931832242 |
333 | W>L | No |
ClinGen TOPMed |
|
|
CA1330146 rs149159486 |
334 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1330145 rs747799937 |
334 | R>W | Variant assessed as Somatic; 0.0001396 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1330147 rs772762294 |
335 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1330148 rs746499872 |
336 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA344235497 rs746499872 |
336 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1330149 rs143693713 |
336 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148090270 CA344235506 |
338 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1445852977 CA344235509 |
338 | P>L | No |
ClinGen gnomAD |
|
|
rs148090270 CA35470989 |
338 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148090270 CA1330150 |
338 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759904993 CA1330151 |
339 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765701004 CA344235518 |
340 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765701004 CA1330152 |
340 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455011107 CA344235534 |
342 | K>N | No |
ClinGen gnomAD |
|
|
rs139393448 CA35470994 |
343 | S>A | No |
ClinGen ESP TOPMed |
|
|
rs775957712 CA1330153 |
344 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393865057 CA344235556 |
346 | R>G | No |
ClinGen gnomAD |
|
|
CA35471004 rs1041603646 |
346 | R>S | No |
ClinGen TOPMed |
|
|
rs763290313 CA1330154 |
347 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1330155 rs764389112 |
348 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs751628518 CA1330156 |
348 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1398970687 CA344235570 |
348 | S>R | No |
ClinGen gnomAD |
|
|
CA1330157 rs372386575 RCV000625728 VAR_080868 |
349 | K>N | found in siblings with a novel form of progressive myoclonus epilepsy; unknown pathological significance; no effect on expression levels, cell surface location, signaling activity or ubiquitination [UniProt] | No |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs766282284 CA1330158 |
350 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1330161 rs778707802 |
351 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs553415739 CA1330160 |
351 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344235586 rs553415739 |
351 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 352 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758090990 CA1330163 |
355 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1330164 rs777479575 |
356 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs970631725 CA35471167 |
357 | L>F | No |
ClinGen gnomAD |
|
|
rs1192005321 CA344235633 |
357 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 357 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344235635 rs1321263982 |
358 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1200013258 CA344235640 |
358 | N>S | No |
ClinGen gnomAD |
|
|
CA344235637 rs1321263982 |
358 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA344235652 rs1265711648 |
360 | T>A | No |
ClinGen gnomAD |
|
|
rs1345149082 CA344235661 |
361 | V>A | No |
ClinGen TOPMed |
|
|
CA1330168 rs114687119 |
361 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776045297 CA1330170 |
362 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA344235667 rs1288475868 |
363 | G>S | No |
ClinGen TOPMed |
|
|
CA1330176 COSM1337883 rs200878639 |
366 | V>M | large_intestine Variant assessed as Somatic; 4.662e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1330178 rs765131475 |
369 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA35471273 rs1024429607 |
370 | F>S | No |
ClinGen TOPMed |
|
|
CA1330179 rs752559897 |
371 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA344235727 rs1335072527 |
372 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA344235725 rs1335072527 |
372 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1571713585 CA344235722 |
372 | T>P | No |
ClinGen Ensembl |
|
|
CA35471293 rs199709819 |
375 | E>G | No |
ClinGen 1000Genomes |
|
|
COSM209492 CA1330181 rs777374958 |
377 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1330182 rs746678071 |
380 | I>V | No |
ClinGen ExAC |
|
|
CA1330183 rs115745935 |
381 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1330185 rs745348108 |
383 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344235801 rs1571713620 |
384 | Y>S | No |
ClinGen Ensembl |
|
|
rs770461543 CA1330186 |
387 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1330189 rs201244518 |
388 | E>K | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377493703 CA1330190 |
390 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344235837 rs1571713633 |
390 | T>P | No |
ClinGen Ensembl |
|
|
rs377493703 CA1330191 |
390 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772132535 CA1330192 |
391 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773384673 CA1330193 |
391 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA35471409 rs773384673 |
391 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344235851 rs1474889380 |
393 | T>A | No |
ClinGen gnomAD |
|
|
rs151200634 CA1330194 |
393 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302249943 CA344235858 |
394 | L>P | No |
ClinGen gnomAD |
|
|
rs1374963667 CA344235856 |
394 | L>V | No |
ClinGen gnomAD |
|
|
CA1330196 rs752647896 |
398 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA344235886 rs1220361595 |
399 | L>F | No |
ClinGen gnomAD |
|
|
CA344235897 rs1346674380 |
401 | N>H | No |
ClinGen TOPMed |
|
|
CA344235923 rs1407923537 |
404 | S>A | No |
ClinGen gnomAD |
|
|
rs145269048 CA35471437 |
404 | S>F | No |
ClinGen ESP TOPMed |
|
|
CA1330197 rs762811498 |
405 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA344235928 rs1216647834 |
405 | T>S | No |
ClinGen TOPMed |
|
|
CA1330198 rs763981644 |
407 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs945874015 CA35471460 |
408 | K>E | No |
ClinGen TOPMed |
|
|
CA1330202 rs143800455 COSM1337884 |
410 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1330203 rs561408193 |
412 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1228691400 CA344235973 |
412 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA344235972 rs1228691400 |
412 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs141962107 CA1330205 CA1330204 |
414 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141962107 CA344235982 |
414 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1330206 rs769001087 |
416 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA344235998 rs1485404167 |
417 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 417 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776209629 CA1330209 COSM3710506 |
419 | I>M | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs773413931 CA1330210 COSM1668373 |
422 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1571713724 CA344236040 |
423 | L>R | No |
ClinGen Ensembl |
|
|
CA1330213 rs138003036 |
424 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 424 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138003036 CA344236041 |
424 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762972110 CA1330214 |
425 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1465148456 CA344236072 |
429 | D>N | No |
ClinGen gnomAD |
|
|
CA344236077 rs1558302634 |
429 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 429 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300558792 CA344236095 |
431 | C>* | No |
ClinGen gnomAD |
|
|
CA35471543 rs747666563 |
434 | C>S | No |
ClinGen Ensembl |
|
|
rs751408912 CA1330219 |
435 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA344236137 rs1294340594 |
437 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs761506972 CA1330220 |
438 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1306056701 CA344236157 |
439 | C>G | No |
ClinGen TOPMed |
|
|
rs1306056701 CA344236156 |
439 | C>R | No |
ClinGen TOPMed |
|
|
rs1272741485 CA344236158 |
439 | C>Y | No |
ClinGen TOPMed |
|
|
CA344236166 rs1208189972 |
440 | G>A | No |
ClinGen gnomAD |
|
|
CA1330223 rs755756498 |
440 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208189972 CA344236167 |
440 | G>V | No |
ClinGen gnomAD |
|
|
rs61734417 CA1330226 |
441 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344236174 rs1571713827 |
442 | A>S | No |
ClinGen Ensembl |
|
|
rs748607219 CA1330228 |
443 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246374793 CA344236180 |
443 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA344236198 rs1395673793 |
446 | S>T | No |
ClinGen gnomAD |
|
|
CA1330231 rs747264401 |
447 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1330232 rs139797932 |
448 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344236218 rs774140568 |
449 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745906677 CA1330234 |
449 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1330235 rs745906677 |
449 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767423544 CA344236228 |
451 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767423544 CA1330238 |
451 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1330237 rs761751995 |
451 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1214677040 CA344236236 |
452 | D>E | No |
ClinGen TOPMed |
|
|
rs760421842 CA1330240 |
453 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1330241 rs766104125 |
454 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753467741 CA1330242 |
455 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1469979555 CA344236258 |
456 | K>E | No |
ClinGen gnomAD |
|
|
rs764750408 CA1330244 |
458 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344236271 rs764750408 |
458 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764750408 CA344236272 |
458 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA35471648 rs148475636 |
459 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA344236283 rs1410022765 |
460 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1330245 rs753151926 |
462 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA344236299 rs753151926 |
462 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1291579316 CA344236304 |
463 | I>T | No |
ClinGen gnomAD |
|
|
CA344236316 rs1222185973 |
465 | F>L | No |
ClinGen TOPMed |
|
|
rs1462694660 CA344236339 |
468 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA344236340 rs1462694660 |
468 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA344236370 rs1441297595 |
472 | P>R | No |
ClinGen TOPMed |
|
|
rs1300458708 CA344236375 |
473 | P>L | No |
ClinGen gnomAD |
|
|
rs747354319 CA1330248 |
473 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1330249 rs534860277 |
474 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781386235 CA1330251 |
477 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA344236408 rs1571713992 |
479 | T>I | No |
ClinGen Ensembl |
|
|
rs769776658 CA1330253 |
480 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1364373847 CA344236418 |
481 | C>S | No |
ClinGen TOPMed |
No associated diseases with O60883
1 regional properties for O60883
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 43 - 301 | IPR017452 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| ciliary membrane | The portion of the plasma membrane surrounding a cilium. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled peptide receptor activity | Combining with a peptide and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| G protein-coupled receptor activity | Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| peptide binding | Binding to a peptide, an organic compound comprising two or more amino acids linked by peptide bonds. |
| prosaposin receptor activity | Combining with prosaposin to initiate a change in cell activity. Prosaposin is the glycoprotein precursor of four cleavage products (saposins A, B, C and D). |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the inhibition of adenylyl cyclase activity and a subsequent decrease in the intracellular concentration of cyclic AMP (cAMP). |
| Bergmann glial cell differentiation | The process in which neuroepithelial cells of the neural tube give rise to Brgmann glial cells, specialized bipotential progenitors cells of the cerebellum. Differentiation includes the processes involved in commitment of a cell to a specific fate. |
| negative regulation of astrocyte differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of astrocyte differentiation. |
| negative regulation of hydrogen peroxide-induced cell death | Any process that stops, prevents or reduces the frequency, rate or extent of hydrogen peroxide-induced cell death. |
| negative regulation of neuron differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. |
| negative regulation of smoothened signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of smoothened signaling. |
| negative regulation of systemic arterial blood pressure | The process that reduces the force with which blood travels through the systemic arterial circulatory system. |
| positive regulation of cerebellar granule cell precursor proliferation | The process that activates or increases the rate or extent of granule cell precursor proliferation. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| smoothened signaling pathway | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened. |
119 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2YDN1 | GPR161 | G protein-coupled receptor 161 | Bos taurus (Bovine) | PR |
| Q0GBZ5 | HCRTR1 | Orexin/Hypocretin receptor type 1 | Bos taurus (Bovine) | PR |
| Q8SPN1 | PROKR2 | Prokineticin receptor 2 | Bos taurus (Bovine) | PR |
| P46626 | ADRB3 | Beta-3 adrenergic receptor | Bos taurus (Bovine) | PR |
| O46639 | TRHR | Thyrotropin-releasing hormone receptor | Bos taurus (Bovine) | PR |
| Q8SPN2 | PROKR1 | Prokineticin receptor 1 | Bos taurus (Bovine) | PR |
| B9VR26 | CMLKR1 | Chemerin-like receptor 1 | Bos taurus (Bovine) | PR |
| P18130 | ADRA1A | Alpha-1A adrenergic receptor | Bos taurus (Bovine) | PR |
| B4XF06 | GPR39 | G-protein coupled receptor 39 | Bos taurus (Bovine) | PR |
| Q17QD8 | GPR37L1 | G-protein coupled receptor 37-like 1 | Bos taurus (Bovine) | PR |
| O18913 | OPN1LW | Long-wave-sensitive opsin 1 | Felis catus (Cat) (Felis silvestris catus) | PR |
| P28683 | PRA1 | Green-sensitive opsin | Gallus gallus (Chicken) | PR |
| Q9N298 | HTR1A | 5-hydroxytryptamine receptor 1A | Pan troglodytes (Chimpanzee) | PR |
| P08099 | Rh2 | Opsin Rh2 | Drosophila melanogaster (Fruit fly) | PR |
| P06002 | ninaE | Opsin Rh1 | Drosophila melanogaster (Fruit fly) | PR |
| Q4LBB9 | Octbeta2R | Octopamine receptor beta-2R | Drosophila melanogaster (Fruit fly) | PR |
| Q8NFJ6 | PROKR2 | Prokineticin receptor 2 | Homo sapiens (Human) | PR |
| Q13585 | GPR50 | Melatonin-related receptor | Homo sapiens (Human) | PR |
| Q9BZJ6 | GPR63 | Probable G-protein coupled receptor 63 | Homo sapiens (Human) | PR |
| Q9H3N8 | HRH4 | Histamine H4 receptor | Homo sapiens (Human) | PR |
| P28336 | NMBR | Neuromedin-B receptor | Homo sapiens (Human) | PR |
| Q9Y5Y3 | GPR45 | Probable G-protein coupled receptor 45 | Homo sapiens (Human) | PR |
| P08913 | ADRA2A | Alpha-2A adrenergic receptor | Homo sapiens (Human) | PR |
| P41597 | CCR2 | C-C chemokine receptor type 2 | Homo sapiens (Human) | PR |
| P51681 | CCR5 | C-C chemokine receptor type 5 | Homo sapiens (Human) | PR |
| Q8TCW9 | PROKR1 | Prokineticin receptor 1 | Homo sapiens (Human) | PR |
| Q99788 | CMKLR1 | Chemerin-like receptor 1 | Homo sapiens (Human) | PR |
| P08908 | HTR1A | 5-hydroxytryptamine receptor 1A | Homo sapiens (Human) | PR |
| P30559 | OXTR | Oxytocin receptor | Homo sapiens (Human) | PR |
| P32239 | CCKBR | Gastrin/cholecystokinin type B receptor | Homo sapiens (Human) | PR |
| Q8TDU9 | RXFP4 | Relaxin-3 receptor 2 | Homo sapiens (Human) | PR |
| P04000 | OPN1LW | Long-wave-sensitive opsin 1 | Homo sapiens (Human) | PR |
| Q6U736 | OPN5 | Opsin-5 | Homo sapiens (Human) | PR |
| P34972 | CNR2 | Cannabinoid receptor 2 | Homo sapiens (Human) | PR |
| P24530 | EDNRB | Endothelin receptor type B | Homo sapiens (Human) | PR |
| P35348 | ADRA1A | Alpha-1A adrenergic receptor | Homo sapiens (Human) | PR |
| Q6W5P4 | NPSR1 | Neuropeptide S receptor | Homo sapiens (Human) | PR |
| O43613 | HCRTR1 | Orexin/Hypocretin receptor type 1 | Homo sapiens (Human) | PR |
| P61073 | CXCR4 | C-X-C chemokine receptor type 4 | Homo sapiens (Human) | PR |
| Q9BXC0 | HCAR1 | Hydroxycarboxylic acid receptor 1 | Homo sapiens (Human) | PR |
| P30556 | AGTR1 | Type-1 angiotensin II receptor | Homo sapiens (Human) | PR |
| Q15761 | NPY5R | Neuropeptide Y receptor type 5 | Homo sapiens (Human) | PR |
| Q8N6U8 | GPR161 | G-protein coupled receptor 161 | Homo sapiens (Human) | PR |
| Q6DWJ6 | GPR139 | Probable G-protein coupled receptor 139 | Homo sapiens (Human) | PR |
| P21462 | FPR1 | fMet-Leu-Phe receptor | Homo sapiens (Human) | PR |
| P35414 | APLNR | Apelin receptor | Homo sapiens (Human) | PR |
| P46091 | CMKLR2 | Chemerin-like receptor 2 | Homo sapiens (Human) | PR |
| P32745 | SSTR3 | Somatostatin receptor type 3 | Homo sapiens (Human) | PR |
| P41439 | FOLR3 | Folate receptor gamma | Homo sapiens (Human) | PR |
| P19973 | Lsp1 | Lymphocyte-specific protein 1 | Mus musculus (Mouse) | PR |
| O54799 | Nmbr | Neuromedin-B receptor | Mus musculus (Mouse) | PR |
| Q64264 | Htr1a | 5-hydroxytryptamine receptor 1A | Mus musculus (Mouse) | PR |
| P51675 | Ccr1 | C-C chemokine receptor type 1 | Mus musculus (Mouse) | PR |
| Q5U431 | Gpr39 | G-protein coupled receptor 39 | Mus musculus (Mouse) | PR |
| P97295 | Npy2r | Neuropeptide Y receptor type 2 | Mus musculus (Mouse) | PR |
| O08786 | Cckar | Cholecystokinin receptor type A | Mus musculus (Mouse) | PR |
| P56481 | Cckbr | Gastrin/cholecystokinin type B receptor | Mus musculus (Mouse) | PR |
| P30731 | Gpr83 | G-protein coupled receptor 83 | Mus musculus (Mouse) | PR |
| P97468 | Cmklr1 | Chemerin-like receptor 1 | Mus musculus (Mouse) | PR |
| P21761 | Trhr | Thyrotropin-releasing hormone receptor | Mus musculus (Mouse) | PR |
| Q5QD16 | Taar3 | Trace amine-associated receptor 3 | Mus musculus (Mouse) | PR |
| P97292 | Hrh2 | Histamine H2 receptor | Mus musculus (Mouse) | PR |
| Q9EQQ3 | Gpr63 | Probable G-protein coupled receptor 63 | Mus musculus (Mouse) | PR |
| Q924H0 | Npffr2 | Neuropeptide FF receptor 2 | Mus musculus (Mouse) | PR |
| P34971 | Adrb1 | Beta-1 adrenergic receptor | Mus musculus (Mouse) | PR |
| Q91ZY2 | Hrh4 | Histamine H4 receptor | Mus musculus (Mouse) | PR |
| O88416 | Gpr33 | Probable G-protein coupled receptor 33 | Mus musculus (Mouse) | PR |
| Q8K087 | Cmklr2 | Chemerin-like receptor 2 | Mus musculus (Mouse) | PR |
| P70658 | Cxcr4 | C-X-C chemokine receptor type 4 | Mus musculus (Mouse) | PR |
| Q9WV08 | Aplnr | Apelin receptor | Mus musculus (Mouse) | PR |
| P97718 | Adra1a | Alpha-1A adrenergic receptor | Mus musculus (Mouse) | PR |
| Q8BZP8 | Npsr1 | Neuropeptide S receptor | Mus musculus (Mouse) | PR |
| Q8K458 | Prokr2 | Prokineticin receptor 2 | Mus musculus (Mouse) | PR |
| P58308 | Hcrtr2 | Orexin receptor type 2 | Mus musculus (Mouse) | PR |
| Q7TQP3 | Gpr119 | Glucose-dependent insulinotropic receptor | Mus musculus (Mouse) | PR |
| Q8BGE9 | Rxfp3 | Relaxin-3 receptor 1 | Mus musculus (Mouse) | PR |
| Q6VZZ7 | Opn5 | Opsin-5 | Mus musculus (Mouse) | PR |
| Q8CIM5 | Gpr84 | G-protein coupled receptor 84 | Mus musculus (Mouse) | PR |
| P25962 | Adrb3 | Beta-3 adrenergic receptor | Mus musculus (Mouse) | PR |
| Q80UC8 | Gpr139 | Probable G-protein coupled receptor 139 | Mus musculus (Mouse) | PR |
| P0C5I1 | Gpr25 | Probable G-protein coupled receptor 25 | Mus musculus (Mouse) | PR |
| P47936 | Cnr2 | Cannabinoid receptor 2 | Mus musculus (Mouse) | PR |
| Q5QD13 | Taar6 | Trace amine-associated receptor 6 | Mus musculus (Mouse) | PR |
| P35846 | Folr1 | Folate receptor alpha | Mus musculus (Mouse) | PR |
| P58307 | Hcrtr1 | Orexin/Hypocretin receptor type 1 | Mus musculus (Mouse) | PR |
| Q8C131 | Hcar1 | Hydroxycarboxylic acid receptor 1 | Mus musculus (Mouse) | PR |
| Q9EQQ4 | Gpr45 | Probable G-protein coupled receptor 45 | Mus musculus (Mouse) | PR |
| B2RPY5 | Gpr161 | G-protein coupled receptor 161 | Mus musculus (Mouse) | PR |
| Q99JG2 | Gpr37l1 | G-protein coupled receptor 37-like 1 | Mus musculus (Mouse) | PR |
| Q764M9 | CXCR4 | C-X-C chemokine receptor type 4 | Sus scrofa (Pig) | PR |
| Q9EQD2 | Npffr2 | Neuropeptide FF receptor 2 | Rattus norvegicus (Rat) | PR |
| O08565 | Cxcr4 | C-X-C chemokine receptor type 4 | Rattus norvegicus (Rat) | PR |
| Q01717 | Trhr | Thyrotropin-releasing hormone receptor | Rattus norvegicus (Rat) | PR |
| P30936 | Sstr3 | Somatostatin receptor type 3 | Rattus norvegicus (Rat) | PR |
| Q9JHG3 | Aplnr | Apelin receptor | Rattus norvegicus (Rat) | PR |
| P43140 | Adra1a | Alpha-1A adrenergic receptor | Rattus norvegicus (Rat) | PR |
| P19327 | Htr1a | 5-hydroxytryptamine receptor 1A | Rattus norvegicus (Rat) | PR |
| P56719 | Hcrtr2 | Orexin receptor type 2 | Rattus norvegicus (Rat) | PR |
| P28564 | Htr1b | 5-hydroxytryptamine receptor 1B | Rattus norvegicus (Rat) | PR |
| P56718 | Hcrtr1 | Orexin/Hypocretin receptor type 1 | Rattus norvegicus (Rat) | PR |
| P28647 | Adora3 | Adenosine receptor A3 | Rattus norvegicus (Rat) | PR |
| P25102 | Hrh2 | Histamine H2 receptor | Rattus norvegicus (Rat) | PR |
| P23944 | Adra1d | Alpha-1D adrenergic receptor | Rattus norvegicus (Rat) | PR |
| Q8R415 | Prokr2 | Prokineticin receptor 2 | Rattus norvegicus (Rat) | PR |
| Q5QD24 | Taar3 | Trace amine-associated receptor 3 | Rattus norvegicus (Rat) | PR |
| P0C0W8 | Gpr139 | Probable G-protein coupled receptor 139 | Rattus norvegicus (Rat) | PR |
| P35370 | Oprl1 | Nociceptin receptor | Rattus norvegicus (Rat) | PR |
| P46090 | Cmklr2 | Chemerin-like receptor 2 | Rattus norvegicus (Rat) | PR |
| O97664 | CMKLR2 | Chemerin-like receptor 2 | Macaca mulatta (Rhesus macaque) | PR |
| O97666 | APLNR | Apelin receptor | Macaca mulatta (Rhesus macaque) | PR |
| Q56H79 | NPSR1 | Neuropeptide S receptor | Macaca mulatta (Rhesus macaque) | PR |
| Q18904 | npr-8 | Probable G-protein coupled receptor npr-8 | Caenorhabditis elegans | PR |
| Q09388 | gar-2 | Muscarinic acetylcholine receptor gar-2 | Caenorhabditis elegans | PR |
| B3DM66 | gpr161 | G-protein coupled receptor 161 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q9W6A6 | opn1mw4 | Green-sensitive opsin-4 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q9W6A5 | opn1mw1 | Green-sensitive opsin-1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q8AYM7 | opn1mw3 | Green-sensitive opsin-3 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q8AYN0 | opn1lw2 | Red-sensitive opsin-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q90X46 | gpr161 | G-protein coupled receptor 161 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRWLWPLAVS | LAVILAVGLS | RVSGGAPLHL | GRHRAETQEQ | QSRSKRGTED | EEAKGVQQYV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PEEWAEYPRP | IHPAGLQPTK | PLVATSPNPG | KDGGTPDSGQ | ELRGNLTGAP | GQRLQIQNPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YPVTESSYSA | YAIMLLALVV | FAVGIVGNLS | VMCIVWHSYY | LKSAWNSILA | SLALWDFLVL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FFCLPIVIFN | EITKQRLLGD | VSCRAVPFME | VSSLGVTTFS | LCALGIDRFH | VATSTLPKVR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PIERCQSILA | KLAVIWVGSM | TLAVPELLLW | QLAQEPAPTM | GTLDSCIMKP | SASLPESLYS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LVMTYQNARM | WWYFGCYFCL | PILFTVTCQL | VTWRVRGPPG | RKSECRASKH | EQCESQLNST |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VVGLTVVYAF | CTLPENVCNI | VVAYLSTELT | RQTLDLLGLI | NQFSTFFKGA | ITPVLLLCIC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RPLGQAFLDC | CCCCCCEECG | GASEASAANG | SDNKLKTEVS | SSIYFHKPRE | SPPLLPLGTP |
| C |