Q16538
PR
Gene name |
GPR162 (GRCA) |
Protein name |
Probable G-protein coupled receptor 162 |
Names |
Gene-rich cluster gene A protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27239 |
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 Q16538
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q16538-F1 | Predicted | AlphaFoldDB |
546 variants for Q16538
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375877745 CA6416153 |
2 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367859986 CA383718974 |
3 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6416156 COSM695323 rs782478623 |
3 | R>Q | lung Variant assessed as Somatic; 0.0001657 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs367859986 CA6416155 |
3 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782639670 CA6416158 |
4 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782639670 CA6416157 |
4 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555119553 CA383719013 |
5 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs922266534 CA383719039 |
6 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs922266534 CA383719042 |
6 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6416161 rs782184342 |
6 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs922266534 CA232434362 |
6 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383719085 rs1555119561 |
7 | G>A | No |
ClinGen gnomAD |
|
|
CA383719089 rs1555119563 |
8 | A>T | No |
ClinGen gnomAD |
|
|
CA383719198 rs1555119566 |
11 | A>V | No |
ClinGen gnomAD |
|
|
rs868975551 CA383719283 |
14 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6416164 rs782232955 |
14 | R>H | Variant assessed as Somatic; 7.896e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs868975551 CA383719277 |
14 | R>S | No |
ClinGen gnomAD |
|
|
CA6416165 rs373604272 |
16 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782148352 CA6416167 |
17 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782694999 CA6416168 |
18 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1179402884 CA383719542 |
24 | G>E | No |
ClinGen TOPMed |
|
|
CA383719557 rs1555119579 |
25 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782746059 CA6416171 |
27 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6416174 rs782782721 |
30 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA383719648 rs782782721 |
30 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 32 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781907654 CA6416175 |
33 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA383719797 rs1487281250 |
35 | I>M | No |
ClinGen TOPMed |
|
|
rs782588699 CA383719867 |
38 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6416178 rs782214532 |
39 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555119587 CA383719881 |
40 | A>T | No |
ClinGen gnomAD |
|
|
CA6416180 rs782651019 |
45 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1555119592 CA383720161 |
52 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 55 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555119595 CA383720263 |
56 | A>E | No |
ClinGen gnomAD |
|
|
rs1555119595 CA383720268 |
56 | A>V | No |
ClinGen gnomAD |
|
|
rs1555119598 CA383720323 |
58 | T>I | No |
ClinGen gnomAD |
|
|
CA6416185 rs782339921 |
59 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1385378733 CA383720382 |
61 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 61 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591573270 CA383720445 |
64 | A>G | No |
ClinGen Ensembl |
|
|
rs781965709 CA383720469 |
66 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs781965709 CA6416186 |
66 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs782116355 CA6416187 |
67 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1591573282 CA383720509 |
69 | T>P | No |
ClinGen Ensembl |
|
|
CA383720558 rs1555119603 |
72 | V>M | No |
ClinGen gnomAD |
|
|
CA383720687 rs1457517841 |
77 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1555119605 CA383720706 |
79 | A>T | No |
ClinGen gnomAD |
|
|
CA383720722 rs1555119607 |
80 | S>F | No |
ClinGen gnomAD |
|
|
CA6416191 rs150501521 |
82 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200629121 CA6416190 |
82 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1197542012 CA383720925 COSM3417098 |
87 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA232434467 rs896523753 |
88 | S>N | No |
ClinGen Ensembl |
|
|
rs1591573331 CA383721161 |
92 | V>G | No |
ClinGen Ensembl |
|
|
CA383721139 rs1249435681 |
92 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1555119611 CA383722411 |
94 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 96 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383722570 rs1565507353 |
100 | L>V | No |
ClinGen Ensembl |
|
|
CA232434472 rs1024331141 |
101 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383722703 rs1591573354 |
104 | T>P | No |
ClinGen Ensembl |
|
|
rs781866473 CA6416195 |
109 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555119618 CA383723033 |
114 | H>N | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1231088025 COSM1208671 CA383723083 |
115 | R>H | lung large_intestine Variant assessed as Somatic; 4.661e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA383723145 rs1555119620 |
116 | M>T | No |
ClinGen gnomAD |
|
|
CA383723203 rs1328431400 |
118 | M>V | No |
ClinGen TOPMed |
|
|
rs1591573396 CA383723260 |
119 | V>G | No |
ClinGen Ensembl |
|
|
rs1435577824 CA383723275 |
120 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1387698796 CA383723282 |
120 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6416198 rs201727451 |
123 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1591573415 CA383723569 |
125 | Y>S | No |
ClinGen Ensembl |
|
|
rs782442390 CA383723612 |
126 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA383723617 rs1464047698 |
126 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs782442390 CA6416199 |
126 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs782225681 CA6416201 |
130 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416203 rs782374850 |
133 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368934487 CA6416207 |
138 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs782068977 CA6416208 |
139 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782340361 CA6416209 |
143 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1555119639 CA383724245 |
144 | V>I | No |
ClinGen gnomAD |
|
|
CA383724424 COSM942931 rs1555119642 |
148 | L>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA383724558 rs1228000233 |
152 | P>S | No |
ClinGen TOPMed |
|
|
CA383724628 rs1555119647 |
154 | I>V | No |
ClinGen gnomAD |
|
|
CA232434532 rs1020180957 |
156 | W>* | No |
ClinGen Ensembl |
|
|
CA6416216 rs782722465 |
157 | H>D | No |
ClinGen ExAC |
|
|
CA6416217 rs781816446 |
158 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1591573498 CA383724771 |
159 | N>T | No |
ClinGen Ensembl |
|
|
CA383724804 rs1340994838 |
160 | G>D | No |
ClinGen TOPMed |
|
|
CA6416218 rs782491554 |
160 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM942932 CA6416219 rs782618462 |
161 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA383724911 rs1333383905 |
162 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6416220 COSM431752 rs781871717 |
162 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1591573522 CA383724960 |
163 | Y>S | No |
ClinGen Ensembl |
|
|
CA383725048 rs1555119656 |
165 | A>G | No |
ClinGen gnomAD |
|
|
rs368326077 CA6416221 |
165 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1555119658 CA383725068 |
166 | R>C | No |
ClinGen gnomAD |
|
|
CA383725072 rs1555119660 |
166 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 167 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383725385 rs1555119665 |
178 | G>S | No |
ClinGen gnomAD |
|
|
rs371513280 CA232434618 |
193 | M>L | No |
ClinGen ESP |
|
|
CA6416232 rs782077072 |
200 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1591573573 CA383725981 |
201 | T>P | No |
ClinGen Ensembl |
|
|
rs782577963 CA232434642 |
202 | F>S | No |
ClinGen Ensembl |
|
|
rs1591573577 CA383726052 |
203 | Y>S | No |
ClinGen Ensembl |
|
|
rs782733404 CA6416233 |
207 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6416235 rs782119914 |
209 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781848627 CA6416234 |
209 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383726202 rs1555119681 |
210 | P>R | No |
ClinGen Ensembl |
|
|
rs782806851 CA383726210 |
211 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6416237 rs781900653 |
211 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782806851 CA6416236 |
211 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA383726235 rs1484305754 |
212 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs782434797 CA6416238 |
212 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555119683 CA383726263 |
213 | A>S | No |
ClinGen gnomAD |
|
|
CA383726274 rs1555119685 |
213 | A>V | No |
ClinGen gnomAD |
|
|
rs116301443 CA6416239 |
214 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145390713 CA383726292 |
214 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6416242 rs145390713 |
214 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6416241 rs116301443 |
214 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1292207787 CA383726321 |
215 | Q>* | No |
ClinGen TOPMed |
|
|
CA383726326 rs1555119687 |
215 | Q>R | No |
ClinGen gnomAD |
|
|
CA383726352 rs375616091 |
217 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1565507508 CA383726356 COSM232431 |
217 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs375616091 COSM1208672 CA6416243 |
217 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA383726367 rs1555119689 |
218 | R>G | No |
ClinGen gnomAD |
|
|
CA383726377 rs1555119690 |
218 | R>I | No |
ClinGen gnomAD |
|
|
rs1356726702 CA383726401 |
219 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6416244 rs782535794 |
221 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416245 rs782535794 |
221 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383726426 rs1555119693 |
221 | G>S | No |
ClinGen gnomAD |
|
|
CA383726435 rs782535794 |
221 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782188250 CA6416247 |
222 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6416248 rs781961331 |
222 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs782188250 CA6416246 |
222 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 222 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555119698 CA383726493 |
223 | G>E | No |
ClinGen gnomAD |
|
|
CA6416252 rs782161441 |
223 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1408618093 CA383726500 |
224 | G>R | No |
ClinGen TOPMed |
|
|
CA6416256 rs377672427 |
227 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6416255 rs782086655 |
227 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6416257 rs377672427 |
227 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383726602 rs1591573678 |
228 | G>S | No |
ClinGen Ensembl |
|
|
rs782813287 CA6416259 COSM1363905 |
229 | G>E | large_intestine Variant assessed as Somatic; 4.751e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 230 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781908850 CA6416260 |
231 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555119704 CA383726737 |
232 | A>D | No |
ClinGen gnomAD |
|
|
CA383726794 rs1181551080 |
234 | G>D | No |
ClinGen TOPMed |
|
|
rs1565507576 CA383726845 |
236 | R>Q | No |
ClinGen Ensembl |
|
|
CA6416262 rs376675662 |
236 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782224057 CA6416264 |
237 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782224057 CA6416263 |
237 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416265 rs782644998 |
238 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782644998 CA383726918 |
238 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555119708 CA383727050 |
244 | I>V | No |
ClinGen gnomAD |
|
|
rs1555119713 CA383727171 |
249 | A>D | No |
ClinGen Ensembl |
|
|
CA383727166 rs1555119712 |
249 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369820038 CA6416268 |
250 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383727190 rs1555119718 |
251 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 253 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383727263 rs1555119721 |
253 | R>Q | No |
ClinGen gnomAD |
|
|
CA383727260 rs1565507618 |
253 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6416271 rs781975870 |
254 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383727313 rs1555119722 |
255 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 255 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383727333 rs1276081042 |
256 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1555119728 CA383727356 |
258 | D>N | No |
ClinGen gnomAD |
|
|
rs142337357 CA6416272 |
259 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1565507644 CA383727416 |
261 | E>* | No |
ClinGen Ensembl |
|
|
CA383727457 rs1591573775 |
262 | S>A | No |
ClinGen Ensembl |
|
|
rs1591573782 CA383727626 |
269 | V>G | No |
ClinGen Ensembl |
|
|
CA6416275 rs782169178 |
269 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA383727658 rs1555119731 |
270 | T>I | No |
ClinGen gnomAD |
|
|
CA6416276 rs782696060 |
272 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1324313030 CA383727735 |
277 | V>I | No |
ClinGen TOPMed |
|
|
rs1459088511 CA383727828 |
282 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1555119734 CA383727835 |
283 | L>F | No |
ClinGen gnomAD |
|
|
CA383727857 rs1555119736 |
284 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 288 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232435119 rs782379612 |
291 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs537356928 CA232435140 |
293 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383728173 rs1555119853 |
295 | S>F | No |
ClinGen gnomAD |
|
|
rs373974188 CA383728223 |
298 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373974188 CA383728221 |
298 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383728239 rs1214971227 |
299 | D>A | No |
ClinGen TOPMed |
|
| TCGA novel | 300 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232435168 rs150340680 |
300 | S>L | No |
ClinGen ESP gnomAD |
|
|
rs1555119864 CA383728268 |
301 | A>T | No |
ClinGen gnomAD |
|
|
CA383728276 rs1555119865 |
301 | A>V | No |
ClinGen gnomAD |
|
|
CA232435191 rs369299686 |
303 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs781839944 CA232435197 |
304 | W>* | No |
ClinGen TOPMed |
|
|
CA383728360 rs1555119869 |
305 | M>I | No |
ClinGen gnomAD |
|
|
rs781904876 CA6416301 |
307 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA383728430 rs1555119877 |
311 | W>* | No |
ClinGen gnomAD |
|
|
rs782721569 CA6416303 |
314 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs781827118 CA6416304 |
315 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1565508070 CA383728519 |
317 | T>M | No |
ClinGen Ensembl |
|
|
CA383728550 rs1555119881 |
320 | L>P | No |
ClinGen gnomAD |
|
|
CA383728562 rs1555119882 |
321 | P>L | No |
ClinGen gnomAD |
|
|
CA383728626 rs1473420967 |
326 | S>F | No |
ClinGen TOPMed |
|
|
rs1417691372 CA383728634 |
327 | C>R | No |
ClinGen TOPMed |
|
|
CA383728647 rs782715686 |
327 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383728669 rs1555119885 |
329 | R>C | No |
ClinGen gnomAD |
|
|
CA383728672 rs1473587817 |
329 | R>H | No |
ClinGen TOPMed |
|
|
CA383728698 rs1555119888 |
331 | R>C | No |
ClinGen gnomAD |
|
|
rs1555119892 CA383728705 |
332 | A>T | No |
ClinGen gnomAD |
|
|
rs782249428 CA383728723 |
333 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416313 rs376678235 |
333 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 333 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383728726 rs782385606 |
334 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6416315 rs782385606 |
334 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs146026728 CA6416316 |
335 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782162794 CA6416317 |
335 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA383728767 rs1555119900 |
339 | E>K | No |
ClinGen gnomAD |
|
|
rs1292554417 CA383728815 |
342 | V>M | No |
ClinGen TOPMed |
|
|
CA383728826 rs1555119907 |
343 | A>T | No |
ClinGen gnomAD |
|
|
CA6416322 rs200776682 |
344 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383728839 rs1555119910 |
344 | I>V | No |
ClinGen Ensembl |
|
|
CA383728862 rs1555119914 |
345 | M>R | No |
ClinGen gnomAD |
|
|
CA383728909 rs1351852697 |
348 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 350 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555119919 CA383728942 |
351 | D>N | No |
ClinGen gnomAD |
|
|
rs782538327 CA6416323 |
352 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205820570 CA383729098 |
354 | G>A | No |
ClinGen TOPMed |
|
|
CA6416349 rs180984481 |
355 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA232435644 rs531107311 |
355 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1555120004 CA383729159 |
358 | D>E | No |
ClinGen gnomAD |
|
|
CA6416352 rs138546589 |
358 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782179943 CA6416353 |
359 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383729170 rs1555120010 |
359 | Y>H | No |
ClinGen gnomAD |
|
|
CA383729199 rs1233242166 |
360 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA383729192 rs1303894762 |
360 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1320263861 CA383729214 |
361 | E>A | No |
ClinGen TOPMed |
|
|
CA6416355 rs782289657 |
362 | G>S | No |
ClinGen ExAC TOPMed |
|
|
rs782309310 CA6416357 |
363 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs141511249 CA6416358 |
363 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383730008 rs1555120021 |
364 | V>I | No |
ClinGen gnomAD |
|
|
rs782350393 CA6416361 |
366 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs782350393 CA383730098 |
366 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1555120032 CA383730167 |
367 | V>A | No |
ClinGen gnomAD |
|
|
rs146164363 COSM942935 CA6416363 |
368 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200287003 CA6416364 |
368 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146164363 CA383730208 |
368 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1591574906 CA383730288 |
370 | D>N | No |
ClinGen Ensembl |
|
|
CA383730310 rs1555120037 |
370 | D>V | No |
ClinGen gnomAD |
|
|
CA6416366 rs782056792 |
371 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs140165402 CA6416369 |
372 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782634175 CA383730390 CA6416370 |
373 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416371 rs781878937 |
374 | A>P | No |
ClinGen ExAC |
|
|
rs782547471 CA6416372 |
374 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782563067 CA6416373 |
376 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA383730466 rs1555120046 |
376 | G>R | No |
ClinGen gnomAD |
|
|
CA6416376 rs782340071 |
377 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs782238146 CA6416377 |
377 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6416375 rs782340071 |
377 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1037383480 CA232435785 |
378 | G>R | No |
ClinGen Ensembl |
|
|
rs782296316 CA383730609 |
379 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA232435797 rs150865844 |
380 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6416382 rs150865844 |
380 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141534197 CA6416381 |
380 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782741889 CA6416385 |
381 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 381 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782741889 CA6416384 |
381 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs370583302 CA383730723 |
383 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370583302 CA6416387 |
383 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383730752 rs1555120054 |
384 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782451509 CA6416389 |
385 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6416390 rs184433124 |
386 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383730808 rs1555120055 |
387 | L>R | No |
ClinGen gnomAD |
|
|
CA6416391 rs377019930 |
388 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782502331 CA6416392 |
389 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782502331 CA383730891 |
389 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232435845 rs201174519 |
390 | G>E | No |
ClinGen Ensembl |
|
|
rs782640208 CA6416393 |
390 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1399169166 CA383730919 |
391 | R>G | No |
ClinGen TOPMed |
|
|
CA6416394 rs782272138 |
391 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs782580040 CA6416396 |
393 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782545933 CA383730997 |
393 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782545933 CA6416395 |
393 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 394 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256856405 CA383731044 |
394 | L>P | No |
ClinGen TOPMed |
|
|
rs900488242 CA232435854 |
394 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383731064 COSM3812886 rs1555120060 |
395 | F>L | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6416397 rs782202009 COSM3812886 |
395 | F>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs150020533 CA6416398 |
397 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1000577100 CA232435871 |
397 | P>S | No |
ClinGen Ensembl |
|
|
rs373602996 CA6416399 |
398 | L>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1555120061 CA383731150 |
398 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555120067 CA383731273 |
402 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 403 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6416429 rs782051240 |
409 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs144632808 CA6416431 |
410 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782708126 CA6416430 |
410 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782392363 CA6416432 |
411 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201319224 COSM84131 CA6416433 |
411 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6416434 rs201319224 |
411 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1565508748 CA383731804 |
415 | D>E | No |
ClinGen Ensembl |
|
|
rs1430239621 CA383731836 |
417 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1565508755 CA383731872 |
418 | N>I | No |
ClinGen Ensembl |
|
|
rs1420087160 CA383731876 |
418 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 418 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781798047 CA383731894 |
419 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs782692117 CA6416436 |
419 | I>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 419 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 420 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782762782 CA6416438 |
420 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782082516 CA6416439 |
422 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555120167 CA383731967 |
423 | P>H | No |
ClinGen gnomAD |
|
|
CA383731956 rs1555120165 |
423 | P>T | No |
ClinGen gnomAD |
|
|
CA232436084 rs782309960 |
424 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs376023985 CA6416441 COSM1253543 |
424 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1188301546 CA383731988 |
425 | E>K | No |
ClinGen TOPMed |
|
|
CA6416443 rs782295663 |
426 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs782312229 CA6416444 |
428 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs944659798 CA232436098 |
430 | L>R | No |
ClinGen Ensembl |
|
|
CA383732076 rs1206983707 |
431 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA383732087 rs1308631740 |
431 | H>R | No |
ClinGen TOPMed |
|
|
rs1206983707 CA383732081 |
431 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA383732112 rs1272865096 |
432 | K>R | No |
ClinGen TOPMed |
|
|
rs1555120185 CA383732122 |
433 | W>S | No |
ClinGen gnomAD |
|
|
rs1555120187 CA383732144 |
434 | S>P | No |
ClinGen gnomAD |
|
|
rs1555120188 CA383732158 |
435 | S>Y | No |
ClinGen gnomAD |
|
|
COSM1188431 CA6416446 rs782081889 |
437 | D>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA232436109 rs1039240609 |
438 | D>G | No |
ClinGen Ensembl |
|
|
rs782702848 CA6416447 |
438 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383732219 rs1555120194 |
439 | I>S | No |
ClinGen gnomAD |
|
|
CA383732221 rs1555120194 |
439 | I>T | No |
ClinGen gnomAD |
|
|
CA383732214 rs1555120191 |
439 | I>V | No |
ClinGen gnomAD |
|
|
CA6416450 rs202234706 |
440 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202234706 CA6416449 |
440 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781988790 CA6416448 |
440 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416452 rs782060990 |
441 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416451 rs781913769 |
441 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416453 rs782724815 |
442 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA232436158 rs200462810 |
443 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383732289 rs1555120206 |
444 | A>T | No |
ClinGen gnomAD |
|
|
CA232436162 rs936078338 |
444 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383732333 rs1555120209 |
446 | S>N | No |
ClinGen gnomAD |
|
|
rs147854198 CA6416456 |
447 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782490981 CA6416455 |
447 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555120216 CA383732385 |
448 | A>T | No |
ClinGen gnomAD |
|
|
CA383732394 rs1555120219 |
448 | A>V | No |
ClinGen gnomAD |
|
|
rs199760751 CA383732424 |
450 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199760751 CA6416460 |
450 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148895065 CA6416459 |
450 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1337511133 CA383732444 |
451 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs782247317 CA6416463 |
451 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337511133 CA383732437 |
451 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6416465 rs782023420 |
452 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA383732514 rs1555120233 |
453 | P>L | No |
ClinGen gnomAD |
|
|
CA6416467 rs200776021 |
455 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200776021 CA6416468 |
455 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555120237 CA383732616 |
458 | Q>* | No |
ClinGen gnomAD |
|
|
VAR_049407 CA6416470 rs11612427 |
459 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA232436228 rs370685085 |
460 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383732660 rs1555120241 |
460 | H>Q | No |
ClinGen gnomAD |
|
|
CA6416471 rs370685085 |
460 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782141264 CA6416472 |
461 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1555120242 CA383732681 |
461 | R>S | No |
ClinGen gnomAD |
|
|
rs1555120243 CA383732710 |
462 | L>F | No |
ClinGen Ensembl |
|
|
CA383732727 rs1555120246 |
463 | E>* | No |
ClinGen Ensembl |
|
|
rs782712077 CA383732749 CA232436254 |
463 | E>D | No |
ClinGen Ensembl |
|
|
rs377367080 CA6416475 |
464 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374204662 CA6416474 |
464 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374204662 CA383732758 |
464 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782480870 CA6416479 |
465 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1299822 rs138578985 CA6416477 |
465 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs138578985 CA6416478 |
465 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419289083 CA383732837 |
466 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1555120253 CA383732828 |
466 | E>G | No |
ClinGen gnomAD |
|
|
rs782279652 CA6416481 |
466 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6416482 rs782569847 |
467 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149007947 CA6416484 |
468 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383732885 COSM431753 rs1591575723 |
469 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA383732970 rs1555120260 |
470 | E>D | No |
ClinGen gnomAD |
|
|
rs1555120257 CA383732913 |
470 | E>Q | No |
ClinGen TOPMed |
|
|
rs782353327 CA6416485 |
471 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA383732971 rs1209738640 |
471 | A>T | No |
ClinGen TOPMed |
|
|
rs782258380 CA6416487 |
473 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781976248 CA6416486 |
473 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs782258380 CA383733040 |
473 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145213201 CA6416490 |
474 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782401586 CA6416489 |
474 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781950849 CA6416493 |
475 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs782728164 CA6416492 |
475 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs781913714 | 476 | L>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383733145 rs782764652 |
476 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416496 rs781874188 |
476 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA383733187 rs200837170 |
477 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383733171 rs1386115962 |
477 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6416497 rs200837170 |
477 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6416498 rs782808475 |
478 | S>N | No |
ClinGen ExAC gnomAD |
|
|
COSM942936 CA6416499 rs149420287 |
480 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM431754 rs367712836 CA6416500 |
480 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6416503 rs371891969 |
482 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750884919 CA232436347 |
484 | E>D | No |
ClinGen Ensembl |
|
|
TCGA novel rs782186100 CA6416505 |
485 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs1431934393 CA383733574 |
486 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 488 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232436364 CA6416507 rs368008300 |
489 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383733676 rs1555120303 |
490 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA232436369 rs552567389 |
490 | S>P | No |
ClinGen Ensembl |
|
|
CA6416509 rs376022819 |
491 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781968979 CA6416510 |
492 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA383733718 rs1303873680 |
492 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 493 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782325207 CA383733763 |
494 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782325207 CA6416512 |
494 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 495 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383733806 rs1555120313 |
495 | P>L | No |
ClinGen gnomAD |
|
|
CA6416514 rs368449781 |
495 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6416517 rs782105211 |
496 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782235597 CA6416515 |
496 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6416518 rs782583140 |
497 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383733858 rs1376502273 |
498 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1376502273 CA383733861 |
498 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6416520 rs782440772 |
499 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6416522 rs781892948 |
502 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA6416521 rs782687439 |
502 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416524 rs199722367 |
504 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555120326 CA383734089 |
507 | T>A | No |
ClinGen gnomAD |
|
|
rs1555120326 CA383734088 |
507 | T>P | No |
ClinGen gnomAD |
|
|
rs1555120328 CA383734141 |
509 | I>V | No |
ClinGen gnomAD |
|
|
rs782339192 CA6416527 |
510 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782339192 CA6416528 |
510 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782339192 CA232436419 |
510 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 514 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782179188 CA6416529 |
517 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA232436423 rs201141145 |
517 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383734380 rs1565509160 |
518 | T>N | No |
ClinGen Ensembl |
|
|
rs1199624200 CA383734399 |
519 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA383734391 rs868946275 |
519 | A>T | No |
ClinGen Ensembl |
|
|
CA383734407 rs1199624200 |
519 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383734436 rs1555120348 |
520 | S>* | No |
ClinGen gnomAD |
|
|
CA383734414 rs1555120345 |
520 | S>P | No |
ClinGen gnomAD |
|
|
rs1565509177 CA383734457 |
521 | P>S | No |
ClinGen Ensembl |
|
|
CA383734477 rs1555120355 |
522 | G>E | No |
ClinGen gnomAD |
|
|
rs1555120350 CA383734466 |
522 | G>R | No |
ClinGen gnomAD |
|
|
CA232436435 rs200791974 |
523 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383734509 rs1555120357 |
523 | H>P | No |
ClinGen gnomAD |
|
|
rs1555120357 CA383734510 |
523 | H>R | No |
ClinGen gnomAD |
|
|
rs200791974 CA6416532 |
523 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383734521 rs1339358952 |
524 | S>P | No |
ClinGen TOPMed |
|
|
CA6416534 rs141933631 |
525 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782069608 CA6416536 |
526 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416537 rs375081664 |
526 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383734607 rs375081664 |
526 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151087736 CA6416539 |
527 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782038710 CA6416538 |
527 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416540 rs782782013 |
528 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383734649 rs782782013 |
528 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004644248 CA232436467 |
528 | P>S | No |
ClinGen gnomAD |
|
|
CA6416541 rs190553000 |
529 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200165470 CA6416543 |
529 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200165470 CA6416544 |
529 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6416542 rs190553000 |
529 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6416545 rs782428915 |
530 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185662326 CA383734741 |
531 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6416546 rs782678241 |
532 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232436473 rs782557583 |
532 | G>S | No |
ClinGen TOPMed |
|
|
CA383734822 rs1234550394 |
534 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs782275323 CA6416547 |
534 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA232436490 rs975050150 |
535 | P>S | No |
ClinGen Ensembl |
|
|
rs369426980 CA6416551 |
536 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140779117 CA6416552 |
536 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140779117 CA383734907 |
536 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383734901 rs369426980 |
536 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200593513 CA6416553 |
537 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6416554 rs200593513 |
537 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373159743 CA6416555 |
537 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782118540 CA6416557 |
538 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416558 rs782747091 |
538 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA383734961 rs1462077918 |
539 | S>F | No |
ClinGen TOPMed |
|
|
rs781947185 CA6416559 |
541 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA383735004 rs1555120381 |
542 | S>P | No |
ClinGen gnomAD |
|
|
CA6416560 rs782060371 |
543 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144638939 CA232436513 |
544 | E>K | No |
ClinGen ESP TOPMed |
|
|
CA383735089 rs1555120387 |
545 | S>G | No |
ClinGen gnomAD |
|
|
CA383735119 rs1457289287 |
546 | R>K | No |
ClinGen TOPMed |
|
|
CA6416563 rs147863696 |
547 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147863696 CA6416564 |
547 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA232436522 rs928607871 |
547 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 548 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6416566 rs375828119 |
548 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369364103 CA6416567 |
549 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 549 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383735218 rs1310485159 |
550 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs782549896 CA6416569 |
550 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782261225 CA6416571 |
552 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA6416572 rs782377573 |
553 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782325721 CA6416576 |
555 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202194160 CA6416578 |
556 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6416579 rs782398629 |
556 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555120419 CA383735443 |
557 | G>E | No |
ClinGen gnomAD |
|
|
rs1565509353 CA383735424 |
557 | G>R | No |
ClinGen Ensembl |
|
|
CA383735461 rs1555120421 |
558 | R>I | No |
ClinGen gnomAD |
|
|
rs1438912558 CA383735480 |
559 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6416582 rs782111996 |
559 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201371743 CA6416583 |
560 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6416586 rs782816875 |
561 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782057855 CA6416585 |
561 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781887990 CA6416587 |
562 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA383735568 rs1591576287 |
562 | L>P | No |
ClinGen Ensembl |
|
|
rs1218688143 CA383735580 |
563 | T>A | No |
ClinGen TOPMed |
|
|
rs371430068 CA6416589 |
563 | T>M | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6416592 rs781840021 |
564 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383735603 rs1555120434 |
564 | G>R | No |
ClinGen gnomAD |
|
|
CA6416593 rs781840021 |
564 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764762878 RCV000958164 |
565 | G>* | No |
ClinVar dbSNP |
|
|
CA6416594 rs141374776 |
565 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141374776 CA6416595 |
565 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1367434333 CA383735613 |
565 | G>S | No |
ClinGen TOPMed |
|
|
CA383735646 rs1555120440 |
566 | E>G | No |
ClinGen gnomAD |
|
|
rs782492246 CA6416597 |
567 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383735720 rs1555120458 |
568 | S>T | No |
ClinGen gnomAD |
|
|
CA6416598 rs782252904 |
569 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555120462 CA383735751 |
569 | A>P | No |
ClinGen gnomAD |
|
|
rs1555120462 CA383735752 |
569 | A>S | No |
ClinGen gnomAD |
|
|
CA232436610 rs782252904 |
569 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6416600 rs782372230 |
571 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1555120476 CA383735814 |
572 | W>* | No |
ClinGen gnomAD |
|
|
rs1555120484 CA383735835 |
572 | W>C | No |
ClinGen gnomAD |
|
|
rs1555120474 CA383735810 |
572 | W>R | No |
ClinGen gnomAD |
|
|
rs145326002 CA6416601 |
573 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6416602 rs782076204 |
574 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA232436614 rs995819516 |
575 | S>P | No |
ClinGen TOPMed |
|
|
CA383735875 rs995819516 |
575 | S>T | No |
ClinGen TOPMed |
|
|
rs374479998 CA383735934 |
577 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374479998 CA6416604 |
577 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781949279 CA383735951 |
578 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA232436632 rs781949279 |
578 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383735948 rs1555120506 |
578 | P>S | No |
ClinGen gnomAD |
|
|
rs782181029 CA6416608 |
581 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6416609 rs782095246 |
582 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA383736049 rs1211210159 |
584 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6416611 rs781804694 |
584 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782435471 CA383736081 |
586 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6416612 rs782435471 |
586 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 587 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6416613 rs782679545 |
587 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs782513707 CA6416615 |
588 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs782513707 CA383736107 |
588 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782620192 CA6416616 |
589 | L>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q16538
No regional properties for Q16538
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q16538 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3UN16 | Gpr162 | Probable G-protein coupled receptor 162 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARGGAGAEE | ASLRSNALSW | LACGLLALLA | NAWIILSISA | KQQKHKPLEL | LLCFLAGTHI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LMAAVPLTTF | AVVQLRRQAS | SDYDWNESIC | KVFVSTYYTL | ALATCFTVAS | LSYHRMWMVR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WPVNYRLSNA | KKQALHAVMG | IWMVSFILST | LPSIGWHNNG | ERYYARGCQF | IVSKIGLGFG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VCFSLLLLGG | IVMGLVCVAI | TFYQTLWARP | RRARQARRVG | GGGGTKAGGP | GALGTRPAFE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VPAIVVEDAR | GKRRSSLDGS | ESAKTSLQVT | NLVSAIVFLY | DSLTGVPILV | VSFFSLKSDS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| APPWMVLAVL | WCSMAQTLLL | PSFIWSCERY | RADVRTVWEQ | CVAIMSEEDG | DDDGGCDDYA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EGRVCKVRFD | ANGATGPGSR | DPAQVKLLPG | RHMLFPPLER | VHYLQVPLSR | RLSHDETNIF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| STPREPGSFL | HKWSSSDDIR | VLPAQSRALG | GPPEYLGQRH | RLEDEEDEEE | AEGGGLASLR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QFLESGVLGS | GGGPPRGPGF | FREEITTFID | ETPLPSPTAS | PGHSPRRPRP | LGLSPRRLSL |
| 550 | 560 | 570 | 580 | ||
| GSPESRAVGL | PLGLSAGRRC | SLTGGEESAR | AWGGSWGPGN | PIFPQLTL |