Q8TCW9
PR
Gene name |
PROKR1 (GPR73, PKR1) |
Protein name |
Prokineticin receptor 1 |
Names |
PK-R1, G-protein coupled receptor 73, G-protein coupled receptor ZAQ, GPR73a |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10887 |
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 Q8TCW9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TCW9-F1 | Predicted | AlphaFoldDB |
392 variants for Q8TCW9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs796052145 CA204071 RCV000190131 |
230 | K>T | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1691401 RCV000736048 RCV002533754 rs144018404 |
340 | L>Q | Aganglionic megacolon Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA347117522 rs1392757044 |
2 | E>G | No |
ClinGen TOPMed |
|
|
CA1691161 rs746263392 |
2 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs371606555 CA50307880 |
3 | T>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs770079576 CA1691162 |
4 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 5 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384928154 CA347117541 |
5 | M>K | No |
ClinGen TOPMed |
|
|
rs1455787157 CA347117545 |
6 | G>R | No |
ClinGen gnomAD |
|
|
CA1691164 rs749820733 |
8 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1394197697 CA347117573 |
9 | D>E | No |
ClinGen gnomAD |
|
|
rs112161696 CA1691165 |
12 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 15 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1691167 rs555259163 |
15 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767871433 CA347117619 |
16 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767871433 CA1691168 |
16 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 18 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA50307881 rs976639581 |
22 | V>G | No |
ClinGen TOPMed |
|
|
rs1452545367 CA347117671 |
24 | N>K | No |
ClinGen gnomAD |
|
|
rs1241057991 CA347117670 |
24 | N>S | No |
ClinGen gnomAD |
|
|
rs202062129 CA1691170 |
26 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540828482 CA1691172 |
27 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA50307882 rs763323084 |
27 | G>R | No |
ClinGen Ensembl |
|
|
rs951108129 CA50307883 |
28 | A>V | No |
ClinGen TOPMed |
|
|
CA1691173 rs758333060 |
29 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs764061435 CA1691174 |
29 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1691175 rs751078222 |
31 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1691176 rs756752495 |
32 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347117726 rs1558577344 |
34 | P>A | No |
ClinGen Ensembl |
|
|
CA347117732 rs1355234114 |
35 | F>L | No |
ClinGen TOPMed |
|
|
rs1421463682 CA347117734 |
35 | F>Y | No |
ClinGen gnomAD |
|
|
CA1691179 rs186403864 |
36 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61742477 CA1691178 |
36 | N>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769237670 CA1691180 |
38 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165232573 CA347117761 |
39 | Y>H | No |
ClinGen gnomAD |
|
|
CA1691181 rs7570797 VAR_024261 |
40 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 40 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347117773 rs762282213 |
40 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA50307885 rs766116478 |
41 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1691183 rs200611279 |
41 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201160681 CA1691185 |
42 | Y>* | No |
ClinGen 1000Genomes ExAC |
|
|
rs748203764 CA347117788 |
42 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA1691184 rs748203764 |
42 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs548179657 CA1691186 |
44 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347117812 rs1361258537 |
44 | M>V | No |
ClinGen TOPMed |
|
|
CA50307886 rs761035263 CA1691187 |
47 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 51 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370003713 CA1691189 |
52 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191968866 CA347117925 |
53 | T>A | No |
ClinGen TOPMed |
|
|
CA347117931 rs1478266815 |
54 | N>H | No |
ClinGen TOPMed |
|
|
rs762785780 CA1691190 |
56 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA50307887 rs1035127517 |
57 | T>A | No |
ClinGen Ensembl |
|
|
rs769294148 CA1691191 |
57 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769294148 CA347117968 |
57 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347118008 rs1257379143 |
60 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756774774 CA347118016 |
61 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691193 rs756774774 |
61 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691194 rs138504480 |
62 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755806088 CA1691196 |
62 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749934385 CA1691195 |
62 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1691198 rs779662940 |
64 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779662940 CA1691197 |
64 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 65 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463035589 CA347118074 |
65 | I>T | No |
ClinGen gnomAD |
|
|
CA50307889 rs1041825226 |
65 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755325729 CA1691199 |
66 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs755325729 CA1691200 |
66 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1341640179 CA347118098 |
67 | M>T | No |
ClinGen TOPMed |
|
|
CA1691201 rs748628017 |
67 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 69 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1691202 rs772690003 |
71 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1691203 rs778065301 |
72 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA347118162 rs1312774881 |
72 | I>V | No |
ClinGen TOPMed |
|
|
rs747053260 CA1691204 |
73 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1691205 rs771327907 |
76 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347118216 rs1558577439 |
76 | C>Y | No |
ClinGen Ensembl |
|
|
CA1691208 rs768440428 |
77 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs547173684 CA1691207 COSM722033 |
77 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1266802523 CA347118248 |
78 | I>T | No |
ClinGen gnomAD |
|
|
CA347118242 rs1486306616 |
78 | I>V | No |
ClinGen gnomAD |
|
|
rs764602545 CA50307891 |
81 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs761806709 CA1691210 |
84 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs138494707 CA1691213 |
85 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138494707 CA1691212 |
85 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 86 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1691214 rs570339911 COSM314469 |
86 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs61742478 CA1691217 |
89 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150860263 CA1691218 |
89 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1691220 rs778402634 |
90 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962690182 CA50307893 |
91 | K>R | No |
ClinGen TOPMed |
|
|
rs771068433 COSM575816 CA1691222 |
94 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1691223 rs371409546 |
94 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371409546 CA347118455 |
94 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371409546 CA1691224 |
94 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347118496 rs1237150315 |
97 | T>I | No |
ClinGen gnomAD |
|
|
CA1691226 rs139844262 |
99 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1691229 rs772023504 COSM1409070 |
100 | L>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1691233 COSM1409072 rs200238619 |
102 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA347118564 rs1396904100 |
102 | A>V | No |
ClinGen gnomAD |
|
|
rs759297385 CA50307894 |
105 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691234 rs753272287 |
105 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1691235 rs759297385 |
105 | A>V | Variant assessed as Somatic; 4.675e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347118612 rs1454278363 |
106 | I>T | No |
ClinGen gnomAD |
|
|
rs1405636354 CA347118647 |
109 | F>S | No |
ClinGen gnomAD |
|
|
CA347118667 rs1459957746 |
111 | V>L | No |
ClinGen gnomAD |
|
|
rs375260445 CA1691236 |
112 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347118677 rs1400017725 |
112 | A>T | No |
ClinGen gnomAD |
|
|
CA347118699 rs1200126918 |
113 | I>T | No |
ClinGen TOPMed |
|
|
rs149086201 CA1691237 |
113 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369283248 CA1691238 |
115 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1691240 rs752055466 |
117 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1691239 rs778454102 |
117 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757693249 CA1691241 |
118 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347118766 rs1223337892 |
118 | F>S | No |
ClinGen TOPMed |
|
|
CA1691242 rs140225124 |
119 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 120 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA50307895 rs939378672 |
120 | M>K | No |
ClinGen Ensembl |
|
|
CA1691243 rs745906725 |
120 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691244 rs756410347 |
122 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691246 rs138479762 |
123 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780094595 CA1691245 |
123 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347118874 rs1558577551 |
125 | V>L | No |
ClinGen Ensembl |
|
|
rs771784209 COSM1409073 CA1691247 |
126 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1130750 CA1691249 rs773143607 |
126 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1691248 rs773143607 |
126 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351589863 CA347118911 |
127 | Q>H | No |
ClinGen TOPMed |
|
|
CA347118920 rs1200430419 |
128 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1200430419 CA347118916 |
128 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1691250 rs770766976 |
130 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691252 rs776242923 |
131 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347118979 rs1413919551 |
132 | H>P | No |
ClinGen gnomAD |
|
|
rs139340482 CA347118983 |
132 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764964441 CA1691253 |
132 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201334198 CA347118991 |
133 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201334198 CA1691255 |
133 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1691257 rs372567384 |
135 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335234801 CA347119042 |
136 | L>R | No |
ClinGen gnomAD |
|
|
CA347119049 rs1288175501 |
137 | C>R | No |
ClinGen TOPMed |
|
|
rs767891025 CA1691259 |
138 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1353984574 CA347119111 |
141 | N>I | No |
ClinGen gnomAD |
|
|
rs750542009 CA1691261 |
141 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1473017568 CA347119104 |
141 | N>Y | No |
ClinGen gnomAD |
|
|
rs1370479113 CA347119127 |
142 | Y>C | No |
ClinGen TOPMed |
|
|
rs1050976292 CA50307897 |
142 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM1022358 CA1691262 rs149410240 |
144 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1691263 rs144714441 |
144 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs144714441 CA347119156 |
144 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347119150 rs149410240 |
144 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145338616 CA1691264 |
145 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA50307899 rs866673060 |
146 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA347119170 rs866673060 |
146 | V>I | No |
ClinGen TOPMed |
|
|
CA347119172 rs866673060 |
146 | V>L | No |
ClinGen TOPMed |
|
|
rs777609032 CA1691268 |
148 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs746748123 CA1691269 |
148 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA347119218 rs771163351 |
149 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA50307903 rs1016620024 |
149 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA50307904 rs771163351 |
149 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347119232 rs1196288288 |
150 | V>D | No |
ClinGen TOPMed |
|
|
CA50307905 rs987162165 |
150 | V>I | No |
ClinGen Ensembl |
|
|
CA347119245 rs1395874673 |
151 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA50307906 rs962519874 |
153 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1691270 rs374948927 |
153 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776381814 CA1691271 |
154 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147256235 CA347119291 |
158 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1691272 rs147256235 |
158 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769119228 COSM1409074 CA1691273 |
159 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA347119314 rs1246551769 |
161 | D>E | No |
ClinGen gnomAD |
|
|
rs151015395 CA1691274 |
161 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347119315 rs1313746321 |
162 | R>G | No |
ClinGen TOPMed |
|
|
CA50308892 rs1012305927 |
162 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA50307908 rs200443028 |
162 | R>T | No |
ClinGen 1000Genomes |
|
|
rs1024618558 CA50308893 |
163 | Y>C | No |
ClinGen Ensembl |
|
|
CA347119373 rs1573339114 |
163 | Y>D | No |
ClinGen Ensembl |
|
|
rs761149383 CA1691299 |
166 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA347119406 rs1398515478 |
166 | I>V | No |
ClinGen TOPMed |
|
|
rs1251229546 CA347119458 |
169 | P>L | No |
ClinGen gnomAD |
|
|
CA347119491 rs1174850888 |
172 | P>T | No |
ClinGen gnomAD |
|
|
CA1691304 rs752794253 |
173 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765473524 CA1691303 |
173 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1158422384 CA347119521 |
174 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 175 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347119554 rs1435383922 |
176 | C>* | No |
ClinGen gnomAD |
|
|
CA1691305 rs80058593 |
178 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA1691307 rs750201940 |
183 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301327979 CA347119606 |
184 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756170802 CA1691308 |
186 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1691309 rs780093103 |
188 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1573339186 CA347119642 |
189 | V>G | No |
ClinGen Ensembl |
|
|
rs149727540 CA1691312 |
191 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169761003 CA347119663 |
193 | I>N | No |
ClinGen TOPMed |
|
|
CA1691313 rs747808824 |
193 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1691315 rs773486402 |
194 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691316 COSM1409076 rs773486402 |
194 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1418200651 CA347119671 |
195 | I>L | No |
ClinGen Ensembl |
|
|
rs1417915693 CA347119675 |
195 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347119679 rs1187536211 |
196 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 196 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364745766 CA347119690 |
198 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1253547939 CA347119701 |
199 | Y>C | No |
ClinGen TOPMed |
|
|
CA347119712 rs1573339247 |
201 | T>P | No |
ClinGen Ensembl |
|
|
rs1025350162 CA50308897 |
204 | T>R | No |
ClinGen TOPMed |
|
|
rs777080515 CA1691318 |
204 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs984288256 CA50308898 |
205 | V>A | No |
ClinGen gnomAD |
|
|
rs752817237 CA1691321 |
206 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA347119746 rs763126261 |
207 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763126261 CA1691322 |
207 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1306115820 CA347119753 |
208 | I>F | No |
ClinGen gnomAD |
|
|
CA347119761 rs1350915563 |
209 | V>D | No |
ClinGen gnomAD |
|
|
rs1558580186 CA347119760 |
209 | V>F | No |
ClinGen Ensembl |
|
|
rs1320466271 CA347119766 |
210 | K>Q | No |
ClinGen TOPMed |
|
|
CA1691323 rs764356821 |
211 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA50308899 rs768155147 |
211 | S>T | No |
ClinGen Ensembl |
|
|
CA347119782 rs1407976778 |
212 | Q>R | No |
ClinGen gnomAD |
|
|
rs750210203 CA1691324 |
214 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA347119802 rs1573339327 |
215 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
| TCGA novel | 217 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs994420158 CA50308900 |
218 | G>C | No |
ClinGen TOPMed |
|
|
CA347119834 rs1415531448 |
219 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1691326 rs755934863 |
220 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1339225667 CA347119848 |
221 | W>S | No |
ClinGen TOPMed |
|
|
CA347119854 rs1479661979 |
222 | P>S | No |
ClinGen gnomAD |
|
|
CA347119852 rs1479661979 |
222 | P>T | No |
ClinGen gnomAD |
|
|
rs1025927898 CA50308901 |
226 | Q>R | No |
ClinGen TOPMed |
|
|
CA1691327 rs766426197 |
227 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691328 rs753774904 |
229 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA347119913 rs1390481487 |
230 | K>N | No |
ClinGen Ensembl |
|
|
CA1691329 rs754957096 |
234 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs778350439 CA1691330 |
236 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs758032802 CA1691332 |
237 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA1691334 rs747403525 |
239 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347119980 rs1414509063 |
240 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1327565391 CA347119985 |
241 | F>S | No |
ClinGen Ensembl |
|
|
CA50308902 rs568864339 |
244 | P>S | No |
ClinGen Ensembl |
|
|
COSM333412 CA347120007 rs1354525493 |
245 | V>M | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs201678056 CA50308903 |
246 | V>A | No |
ClinGen Ensembl |
|
|
rs1444745979 CA347120033 |
249 | T>P | No |
ClinGen TOPMed |
|
|
rs371965189 CA1691338 |
251 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275400142 CA347120055 |
252 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1209606822 CA347120060 |
253 | A>T | No |
ClinGen TOPMed |
|
|
CA347120085 rs775480783 |
257 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA347120086 rs763039330 |
257 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1691340 rs763039330 |
257 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1691339 rs775480783 |
257 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs764251388 CA1691341 |
258 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA347120088 rs1257273361 |
258 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs367994656 CA1691342 |
259 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143380195 CA1691343 |
260 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143380195 CA347120106 |
260 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347120115 rs1426345458 TCGA novel |
261 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs371866033 CA1691344 |
262 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753677083 CA347120126 |
263 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691345 rs753677083 COSM1263141 |
263 | A>V | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1691348 rs752174431 |
264 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752174431 CA347120132 |
264 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA50308905 rs946048539 |
265 | P>S | No |
ClinGen Ensembl |
|
|
CA347120150 rs1448424011 |
267 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1691349 rs757888025 |
268 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA347120152 rs1558580296 |
268 | Q>K | No |
ClinGen Ensembl |
|
|
CA50308906 rs1037776193 |
269 | T>R | No |
ClinGen Ensembl |
|
|
rs777297403 CA1691350 |
270 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347120183 rs1573339581 |
272 | I>T | No |
ClinGen Ensembl |
|
|
CA1691351 rs201601840 |
273 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347120188 rs1558580302 |
273 | R>H | No |
ClinGen Ensembl |
|
|
rs200798729 CA1691352 |
274 | K>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 274 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1691353 rs781576253 |
275 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA347120208 rs1573339597 |
276 | L>R | No |
ClinGen Ensembl |
|
|
rs746208336 CA1691354 |
277 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746208336 CA347120213 |
277 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746208336 CA347120212 |
277 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs770223408 CA1691355 |
278 | C>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA347120216 rs1445103455 |
278 | C>G | No |
ClinGen TOPMed |
|
|
CA1691356 rs200160500 |
279 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749330048 CA1691357 COSM1263140 |
279 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA347120225 rs1176236908 |
280 | R>G | No |
ClinGen TOPMed |
|
|
rs551335675 CA1691358 |
280 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1691359 rs376393655 |
280 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA347120243 rs1187480878 |
282 | T>M | No |
ClinGen gnomAD |
|
|
rs1252815963 CA347120272 |
287 | M>I | No |
ClinGen gnomAD |
|
|
rs956742697 CA347120270 |
287 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs956742697 CA50308907 |
287 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1450751695 CA347120268 |
287 | M>V | No |
ClinGen gnomAD |
|
|
rs1558580324 CA347120277 |
288 | C>G | No |
ClinGen Ensembl |
|
|
rs767821813 CA1691361 |
288 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA50308908 rs867313843 |
290 | L>F | No |
ClinGen Ensembl |
|
|
rs199986686 CA1691364 |
291 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347120300 rs752614814 |
292 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691365 rs752614814 |
292 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691366 rs762384062 |
293 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA347120308 rs762384062 |
293 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 294 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200250554 CA1691367 |
294 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1225519639 CA347120319 |
295 | L>P | No |
ClinGen TOPMed |
|
|
CA1691368 rs200892456 |
296 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756952429 CA1691369 |
298 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780773340 COSM477584 CA1691370 |
298 | A>V | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA347120342 rs1221423350 |
299 | P>S | No |
ClinGen gnomAD |
|
|
rs1050177501 CA50308912 |
300 | F>V | No |
ClinGen TOPMed |
|
|
CA347120363 rs756432723 |
302 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347120362 rs756432723 |
302 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691372 rs756432723 |
302 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347120380 rs1465955481 |
304 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs780436849 CA1691374 |
305 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573339777 CA347120384 |
305 | I>N | No |
ClinGen Ensembl |
|
|
rs888225698 CA50308914 |
306 | V>E | No |
ClinGen Ensembl |
|
|
CA1691376 rs143892402 |
306 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM287209 CA1691375 rs143892402 |
306 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748220604 CA1691377 COSM1222130 |
307 | R>C | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748220604 CA1691378 |
307 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691379 rs773530836 COSM194781 |
307 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs773530836 CA347120391 |
307 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 308 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1691381 rs147273197 |
310 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160211984 CA347120413 |
310 | F>S | No |
ClinGen gnomAD |
|
|
CA1691382 rs775135073 |
311 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691383 rs763014844 |
312 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201464916 CA347120426 |
313 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs201464916 COSM194782 CA1691385 |
313 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 314 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 317 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1691388 rs750032040 |
319 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1330849849 CA347120477 |
320 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1330849849 CA347120476 |
320 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1048773537 CA50308916 |
323 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs377223485 CA1691389 COSM257812 CA347120507 |
324 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD NCI-TCGA |
|
rs780531373 CA1691390 |
325 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755561647 CA1691392 |
327 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs754117272 CA1691391 |
327 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1024188676 COSM284284 CA50308918 |
328 | E>D | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA347120535 rs1474356693 |
329 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1474356693 CA347120533 |
329 | C>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 330 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177650910 CA347120545 |
330 | I>T | No |
ClinGen TOPMed |
|
|
CA1691394 rs369879000 |
331 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 331 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347120557 rs1414663401 |
332 | M>T | No |
ClinGen gnomAD |
|
|
CA347120554 rs1421868342 |
332 | M>V | No |
ClinGen TOPMed |
|
|
rs772215016 CA1691395 |
333 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA347120566 rs1558580435 |
333 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 333 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778157368 CA1691396 |
335 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1691398 rs771055180 |
336 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1188811019 CA347120598 |
337 | I>M | No |
ClinGen TOPMed |
|
|
CA347120597 rs1310297243 |
337 | I>S | No |
ClinGen gnomAD |
|
|
rs1353896386 CA347120603 |
338 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347120608 rs1237040563 |
339 | T>S | No |
ClinGen TOPMed |
|
|
CA1691400 rs775396423 COSM1532347 |
340 | L>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1229586316 CA347120632 |
343 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM3391821 rs377207792 CA1691405 |
345 | V>I | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1293104639 CA347120653 |
346 | K>R | No |
ClinGen TOPMed |
|
|
rs991582739 CA50308919 |
348 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1238315257 CA347120688 |
351 | K>R | No |
ClinGen gnomAD |
|
|
CA1691409 rs373101730 |
354 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1691408 rs200051519 |
354 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347120722 rs1407602609 |
356 | I>F | No |
ClinGen TOPMed |
|
|
CA1691410 rs755357809 |
356 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA347120735 rs1337006675 |
357 | M>I | No |
ClinGen TOPMed |
|
|
CA1691411 rs765846070 |
357 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1691414 rs375582560 |
359 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375582560 CA347120746 |
359 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1691413 rs375582560 |
359 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395760808 CA347120764 |
362 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 363 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347120772 rs536439415 |
363 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1691415 rs536439415 |
363 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347120780 rs1172980081 |
364 | S>Y | No |
ClinGen TOPMed |
|
|
CA1691416 CA1691417 rs757522094 |
365 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749111378 CA1691418 |
366 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA347120792 rs1272512272 |
366 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1446556404 CA347120798 |
367 | G>D | No |
ClinGen TOPMed |
|
|
CA1691419 rs146460572 |
367 | G>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1229091659 CA347120804 |
368 | G>A | No |
ClinGen gnomAD |
|
|
rs748147832 CA347120801 |
368 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1691421 rs748147832 |
368 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772823273 CA1691423 |
371 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200848333 CA1691426 |
371 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691424 rs200848333 |
371 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1691425 rs200848333 |
371 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251689701 CA347120836 |
373 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA347120843 rs1243616626 |
375 | D>N | No |
ClinGen TOPMed |
|
|
rs1189681107 CA347120857 |
377 | K>Q | No |
ClinGen gnomAD |
|
|
rs149019255 CA1691428 |
378 | T>I | No |
ClinGen ESP ExAC |
|
|
CA1691430 rs759014011 |
379 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs34715748 CA1691429 |
379 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1022365 rs139618486 CA50308922 |
385 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA347120928 rs1573340143 |
387 | V>G | No |
ClinGen Ensembl |
|
|
CA1691434 rs781487823 |
389 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1415824339 CA347120944 |
390 | I>L | No |
ClinGen gnomAD |
|
|
rs756321409 CA1691436 |
392 | L>P | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8TCW9
1 regional properties for Q8TCW9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 71 - 396 | IPR017452 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma 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. |
2 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. |
| neuropeptide Y receptor activity | Combining with neuropeptide Y to initiate a change in cell activity. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
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 |
| Q17QD8 | GPR37L1 | G-protein coupled receptor 37-like 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 |
| 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 |
| Q8SPN2 | PROKR1 | Prokineticin receptor 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 |
| 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 |
| Q99788 | CMKLR1 | Chemerin-like receptor 1 | Homo sapiens (Human) | PR |
| P08908 | HTR1A | 5-hydroxytryptamine receptor 1A | Homo sapiens (Human) | PR |
| P32239 | CCKBR | Gastrin/cholecystokinin type B receptor | Homo sapiens (Human) | PR |
| O60883 | GPR37L1 | G-protein coupled receptor 37-like 1 | 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 |
| 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 |
| O43613 | HCRTR1 | Orexin/Hypocretin receptor type 1 | Homo sapiens (Human) | PR |
| P30559 | OXTR | Oxytocin receptor | Homo sapiens (Human) | PR |
| Q8NFJ6 | PROKR2 | Prokineticin receptor 2 | 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 |
| Q99JG2 | Gpr37l1 | G-protein coupled receptor 37-like 1 | 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 |
| 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 |
| METTMGFMDD | NATNTSTSFL | SVLNPHGAHA | TSFPFNFSYS | DYDMPLDEDE | DVTNSRTFFA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AKIVIGMALV | GIMLVCGIGN | FIFIAALVRY | KKLRNLTNLL | IANLAISDFL | VAIVCCPFEM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DYYVVRQLSW | EHGHVLCTSV | NYLRTVSLYV | STNALLAIAI | DRYLAIVHPL | RPRMKCQTAT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GLIALVWTVS | ILIAIPSAYF | TTETVLVIVK | SQEKIFCGQI | WPVDQQLYYK | SYFLFIFGIE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FVGPVVTMTL | CYARISRELW | FKAVPGFQTE | QIRKRLRCRR | KTVLVLMCIL | TAYVLCWAPF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YGFTIVRDFF | PTVFVKEKHY | LTAFYIVECI | AMSNSMINTL | CFVTVKNDTV | KYFKKIMLLH |
| 370 | 380 | 390 | |||
| WKASYNGGKS | SADLDLKTIG | MPATEEVDCI | RLK |