P20309
PR
Gene name |
CHRM3 |
Protein name |
Muscarinic acetylcholine receptor M3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1131 |
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
412 variants for P20309
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1680093659 RCV001251074 |
118 | G>R | Prune belly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000022466 rs587776862 |
392 | P>missing | Prune belly syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1457005203 CA345419303 |
3 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 8 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775276722 CA1475702 |
9 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760532849 CA1475703 |
10 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776890253 CA1475705 |
15 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345419570 rs1244235649 |
17 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs369433508 CA39883614 |
18 | S>C | No |
ClinGen gnomAD |
|
|
CA345419587 rs1275601828 |
18 | S>T | No |
ClinGen gnomAD |
|
|
rs369433508 CA345419591 |
18 | S>Y | No |
ClinGen gnomAD |
|
|
CA1475708 rs750525532 |
22 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA1475709 rs762878742 |
23 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1254771569 CA345419685 |
23 | S>R | No |
ClinGen gnomAD |
|
|
rs200941307 CA39883659 |
26 | D>A | No |
ClinGen Ensembl |
|
|
rs202237246 CA1475714 |
26 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200014816 CA39883653 |
26 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1475713 rs200014816 |
26 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA345419729 rs200014816 |
26 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345419745 rs201891859 |
27 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1475715 rs201891859 |
27 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345419744 rs201891859 |
27 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1475716 rs778362934 |
28 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA345419757 rs778362934 |
28 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs200297591 CA39883684 |
28 | G>R | No |
ClinGen Ensembl |
|
|
rs1373304904 CA345419788 |
30 | P>S | No |
ClinGen gnomAD |
|
|
CA1475718 rs367791242 |
31 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
TCGA novel CA1475719 rs367791242 |
31 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP TOPMed gnomAD NCI-TCGA |
|
rs946714567 CA39883711 |
31 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201042655 COSM2049229 CA1475723 |
34 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 35 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1475725 rs200497627 |
37 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761532824 CA39883756 |
38 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761532824 CA1475726 |
38 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39883762 rs141933019 |
39 | S>G | No |
ClinGen ESP |
|
|
rs201556657 CA39883766 |
40 | Y>C | No |
ClinGen Ensembl |
|
|
CA345420047 rs1191273726 |
41 | N>K | No |
ClinGen TOPMed |
|
|
CA1475728 rs138701445 |
41 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345420051 rs1254713870 |
42 | V>I | No |
ClinGen gnomAD |
|
|
CA1475729 rs200291664 |
44 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201425358 CA1475731 |
44 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201425358 CA1475730 |
44 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1475733 rs768096500 |
45 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345420138 rs1278923817 |
46 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345420135 rs1278923817 |
46 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 48 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 49 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1475735 COSM906305 rs756421149 |
49 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs112315088 COSM906305 CA39883843 |
49 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 51 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 52 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1475739 rs149077005 COSM1502056 |
53 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1475737 rs750014485 |
53 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1371608077 CA345420224 |
53 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1475740 rs200690991 |
54 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345420237 rs200690991 |
54 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1475741 rs200690991 |
54 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1475742 rs201386253 |
54 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs905131372 CA39883900 |
55 | T>I | No |
ClinGen TOPMed |
|
|
CA1475746 rs201554826 |
57 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199655840 CA1475744 |
57 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345420281 rs1425689194 |
58 | D>G | No |
ClinGen TOPMed |
|
|
CA1475747 rs771133412 |
59 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA345420361 rs1436115041 |
65 | V>A | No |
ClinGen gnomAD |
|
|
VAR_033461 CA1475751 rs2067481 |
65 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1252255489 CA345420399 |
67 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 67 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 69 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458224182 CA345420442 |
70 | F>S | No |
ClinGen TOPMed |
|
|
rs764345192 CA345420462 |
72 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1475753 rs764345192 |
72 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1475754 rs754184385 |
74 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345420511 rs1221241600 |
75 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs112684614 CA39884005 |
83 | I>V | No |
ClinGen Ensembl |
|
|
CA1475756 rs765952354 |
84 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1558230580 CA345420613 |
85 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 96 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748007577 CA1475760 |
100 | K>R | No |
ClinGen ExAC |
|
|
rs907686270 CA39884061 |
102 | V>A | No |
ClinGen Ensembl |
|
|
rs777454212 CA1475762 |
103 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345420851 rs1290736649 |
105 | Y>D | No |
ClinGen gnomAD |
|
|
rs1178005778 CA345420874 |
108 | L>S | No |
ClinGen TOPMed |
|
|
rs774657358 CA1475765 |
110 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA1475766 rs746011951 |
111 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1168092147 CA345420909 |
114 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 115 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772247530 CA1475767 |
115 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1475769 rs191072279 |
120 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM906309 CA1475771 rs776861962 |
126 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 129 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345421014 rs1558230871 |
129 | I>V | No |
ClinGen Ensembl |
|
|
CA39884152 rs867578112 |
133 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 136 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766074699 CA1475773 |
138 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345421165 rs1162942205 |
140 | A>S | No |
ClinGen gnomAD |
|
|
CA345421201 rs1572658721 |
142 | D>A | No |
ClinGen Ensembl |
|
|
rs199949126 CA1475776 |
146 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1442090970 CA345421307 |
150 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 154 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39884195 rs868206034 |
155 | S>F | No |
ClinGen Ensembl |
|
|
CA345421355 rs1212684599 |
157 | M>I | No |
ClinGen TOPMed |
|
|
rs1346093157 CA345421370 |
160 | L>M | No |
ClinGen TOPMed |
|
|
CA39884201 rs1050668506 |
165 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 167 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345421444 rs1380703170 |
170 | I>T | No |
ClinGen gnomAD |
|
|
rs1379718140 CA345421441 |
170 | I>V | No |
ClinGen TOPMed |
|
|
CA1475778 COSM906310 rs756038537 |
171 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 174 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 174 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM319453 CA1475782 rs760535785 |
175 | T>M | lung kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772370324 CA1475784 |
177 | R>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1236719 CA345421536 rs1487020414 |
180 | R>Q | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1475786 rs747040392 |
183 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777178131 CA1475789 |
186 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180207221 CA345421603 |
186 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777178131 CA1475788 |
186 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345421632 rs770116635 |
188 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1475790 rs770116635 |
188 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 189 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767118597 CA1475793 |
190 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1475794 rs767118597 |
190 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867075275 CA39884324 |
193 | W>R | No |
ClinGen Ensembl |
|
|
CA1475796 rs202207074 |
197 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM141852 rs267598444 CA39884350 |
200 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA345421824 COSM141852 rs1558231270 |
200 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA345421916 rs200493922 |
205 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778872727 CA1475799 CA345421938 |
206 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1365414451 CA345421943 |
207 | W>R | No |
ClinGen gnomAD |
|
|
rs1230128889 CA345422017 |
211 | V>I | No |
ClinGen gnomAD |
|
|
rs866563180 CA39884394 |
214 | R>K | No |
ClinGen Ensembl |
|
|
CA1475802 rs780261877 |
218 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 219 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259419692 CA345422146 |
220 | E>Q | No |
ClinGen TOPMed |
|
|
rs1237724077 CA345422243 |
227 | S>G | No |
ClinGen TOPMed |
|
|
CA1475807 rs199549014 |
227 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345422281 rs1465434442 |
229 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 230 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369788173 CA39884417 |
231 | I>V | No |
ClinGen ESP |
|
|
rs773600041 CA1475808 |
232 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA345422398 rs1173536206 |
237 | I>L | No |
ClinGen gnomAD |
|
|
rs1173536206 CA345422394 |
237 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA39884436 rs201172153 |
238 | A>T | No |
ClinGen Ensembl |
|
|
CA345422422 rs1412589790 |
239 | A>V | No |
ClinGen TOPMed |
|
|
CA1475811 rs775195839 |
242 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1336707934 CA345422516 |
245 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1336707934 CA345422511 |
245 | T>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 251 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1475813 rs375780348 |
253 | R>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1318102063 CA345422671 |
254 | I>N | No |
ClinGen gnomAD |
|
|
CA345422732 rs1382696054 |
257 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA345422794 rs1325500058 |
260 | K>T | No |
ClinGen gnomAD |
|
|
rs753237593 CA1475814 |
261 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765198413 CA1475816 |
269 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1475817 rs750254408 |
270 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199820938 CA1475818 |
274 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA39884472 rs757383989 |
275 | A>V | No |
ClinGen Ensembl |
|
|
CA1475819 rs200451506 |
276 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751770776 CA1475820 |
278 | E>K | Variant assessed as Somatic; 0.0002772 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA39884492 rs1044767306 |
279 | N>D | No |
ClinGen TOPMed |
|
|
CA1475821 rs201656302 |
281 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1475822 rs201656302 |
281 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs748189010 CA1475823 |
282 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs770292286 CA1475824 |
282 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145759529 CA1475826 |
284 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200801669 CA1475828 |
288 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39884525 rs1035343825 |
289 | S>C | No |
ClinGen TOPMed |
|
|
rs1397945580 CA345423333 |
289 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs775053336 CA1475829 |
290 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1205128798 CA345423403 |
292 | S>G | No |
ClinGen TOPMed |
|
|
rs768152496 CA1475831 |
294 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768152496 CA1475832 |
294 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345423471 rs1325170599 |
295 | L>F | No |
ClinGen gnomAD |
|
|
CA39884591 rs920637480 |
295 | L>R | No |
ClinGen gnomAD |
|
|
CA1475834 rs776778546 |
300 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345423590 rs1331141727 |
301 | K>R | No |
ClinGen gnomAD |
|
|
CA1475835 COSM1340541 rs200967479 |
302 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1475836 rs202097685 |
302 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202097685 CA345423597 |
302 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350111882 CA345423602 |
303 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 303 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210630991 CA345423608 |
304 | N>S | No |
ClinGen gnomAD |
|
|
rs766178992 CA1475837 |
305 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA39884622 rs200100452 |
305 | R>S | No |
ClinGen Ensembl |
|
|
rs1489957274 CA345423619 |
306 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs545390756 CA1475838 |
306 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA39884634 rs944995539 |
307 | K>N | No |
ClinGen gnomAD |
|
|
CA1475840 rs767571519 |
308 | Y>C | No |
ClinGen ExAC |
|
|
CA1475839 rs755262263 |
308 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 309 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM425730 CA1475841 rs201639396 |
310 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200806862 CA39884647 |
310 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs200806862 CA39884648 |
310 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs200806862 CA345423681 |
310 | R>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1458030491 CA345423727 |
313 | F>L | No |
ClinGen gnomAD |
|
|
rs1423687992 CA345423798 |
317 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1475845 rs757656529 |
318 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs749765063 CA1475844 |
318 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA345423818 rs1407900577 |
319 | S>N | No |
ClinGen gnomAD |
|
|
CA1475847 rs746150222 |
322 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286112673 CA345423872 |
323 | S>G | No |
ClinGen gnomAD |
|
|
rs776406952 CA1475849 |
323 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 325 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39884718 rs868793639 |
325 | E>G | No |
ClinGen Ensembl |
|
|
rs201132730 CA1475851 |
325 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1475852 rs561025752 |
326 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1194552689 CA345423938 |
327 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA39884744 rs914082009 |
328 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs762974054 CA1475853 |
329 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345424104 rs1189025294 |
334 | S>G | No |
ClinGen gnomAD |
|
|
CA345424108 rs137992669 |
334 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1475855 rs137992669 |
334 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767786650 CA1475857 |
338 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1475860 rs149178518 |
339 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39884759 rs202235271 |
339 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1475859 rs202235271 |
339 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1402836385 CA345424243 |
342 | A>V | No |
ClinGen gnomAD |
|
|
rs1396607898 CA345424271 |
345 | S>P | No |
ClinGen gnomAD |
|
|
rs1382621395 CA345424305 |
347 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA345424297 rs1233638355 |
347 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 350 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs904318488 COSM3785203 CA39884782 |
350 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1324976681 CA345424353 |
351 | S>C | No |
ClinGen gnomAD |
|
|
CA345424386 rs139009806 |
353 | D>E | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
CA1475866 rs201087854 |
353 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345424371 rs201087854 |
353 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39884797 rs749972605 |
354 | E>K | No |
ClinGen Ensembl |
|
|
rs1466814941 CA345424443 |
357 | I>T | No |
ClinGen TOPMed |
|
|
CA1475869 rs747776674 |
357 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1475873 rs770918452 |
360 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774144467 CA1475874 |
361 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA39884841 rs866645963 |
362 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs866645963 CA345424506 |
362 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA345424547 rs1188804130 |
365 | Y>* | No |
ClinGen gnomAD |
|
|
CA1475877 rs779040386 |
367 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345424572 rs1169486958 |
368 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 370 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39884865 rs865795277 |
371 | L>F | No |
ClinGen Ensembl |
|
|
CA345424628 rs1271801283 |
372 | P>L | No |
ClinGen TOPMed |
|
|
rs1467543087 CA345424631 |
373 | G>S | No |
ClinGen gnomAD |
|
|
CA345424650 rs1334668008 |
375 | S>I | No |
ClinGen gnomAD |
|
|
CA39884874 rs961905952 |
375 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs200804464 CA1475879 |
376 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1475881 rs753963231 |
379 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1475880 rs753963231 |
379 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199775292 CA39884904 |
382 | K>E | No |
ClinGen TOPMed |
|
|
rs1313207797 CA345424717 |
384 | P>S | No |
ClinGen gnomAD |
|
|
CA1475885 rs780583857 |
386 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1558232893 COSM1340543 CA345424751 |
387 | D>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1208821081 CA345424744 |
387 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 389 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770343934 CA1475890 |
390 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA345424795 rs1434730523 |
391 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA39884950 rs201164248 |
392 | P>A | No |
ClinGen gnomAD |
|
|
CA345424812 rs1428536029 |
392 | P>H | No |
ClinGen gnomAD |
|
|
CA345424810 rs201164248 |
392 | P>S | No |
ClinGen gnomAD |
|
|
rs1469298039 CA345424815 |
393 | E>K | No |
ClinGen gnomAD |
|
|
rs1347135962 CA345424837 |
394 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 395 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345424855 rs1381419305 |
395 | E>G | No |
ClinGen TOPMed |
|
|
rs1444936983 CA345424846 |
395 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs61744065 CA1475891 |
396 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867538499 CA39884975 |
397 | G>E | No |
ClinGen Ensembl |
|
|
rs966407999 CA39884970 |
397 | G>R | No |
ClinGen TOPMed |
|
|
rs1288556516 CA345424883 |
398 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA345424892 rs1368746636 |
399 | V>L | No |
ClinGen gnomAD |
|
|
CA1475893 rs201160361 |
401 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39884982 rs201799973 |
401 | L>S | No |
ClinGen Ensembl |
|
|
CA345424939 rs892379527 |
402 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1475895 rs200350916 |
403 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1475896 rs768922349 |
405 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA39885035 rs200422713 |
406 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs373165288 CA1475898 |
406 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1475897 rs201696651 |
406 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345424990 rs201696651 |
406 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201487875 CA39885043 |
407 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1475899 rs765205519 |
410 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs199785981 CA1475900 |
410 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1007638498 CA39885056 |
412 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1350703518 CA345425045 |
413 | S>N | No |
ClinGen gnomAD |
|
|
CA345425048 rs1426870767 |
413 | S>R | No |
ClinGen gnomAD |
|
|
rs145638222 CA1475901 COSM334275 |
414 | V>M | lung Variant assessed as Somatic; 0.0 impact. pancreas [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA345425060 rs201501580 |
415 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766930700 CA1475902 |
415 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1475906 rs777550736 |
416 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1475904 rs755384239 |
416 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1475907 rs756840634 |
417 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345425102 rs1320786277 |
419 | S>C | No |
ClinGen TOPMed |
|
|
rs142511395 CA39885092 |
420 | F>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM141854 rs1572661844 CA345425142 |
421 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1406659374 CA345425137 COSM141853 |
421 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA345425213 rs1361191212 |
425 | S>F | No |
ClinGen gnomAD |
|
|
COSM109057 rs143690744 CA39885108 |
428 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1475910 rs574768355 |
430 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150946469 CA1475909 |
430 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1475912 RCV000970066 rs16839102 VAR_049368 |
431 | L>P | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779951293 CA1475911 |
431 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345425287 rs1446692422 |
432 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1475913 rs563366663 |
434 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145865028 CA39885156 |
435 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145865028 CA1475916 |
435 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1475917 rs149550688 |
436 | D>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 436 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345425346 rs1331443076 |
436 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763072890 CA1475918 |
437 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1302944444 CA345425367 |
437 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 439 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345425411 rs1558233542 |
440 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1475920 rs774998249 |
441 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760020909 CA1475921 |
442 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 443 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144239896 CA1475923 COSM74151 |
443 | V>I | ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200801228 CA345425452 |
444 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200801228 CA1475924 |
444 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1475925 rs143159997 |
445 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 445 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 447 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39885274 rs866883001 |
448 | G>D | No |
ClinGen Ensembl |
|
|
CA39885283 rs926367319 |
449 | K>E | No |
ClinGen TOPMed |
|
|
rs1181972914 CA345425534 |
450 | S>R | No |
ClinGen gnomAD |
|
|
rs140545853 CA1475928 |
451 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139203623 CA1475929 |
452 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345425606 rs1409876767 |
457 | S>T | No |
ClinGen gnomAD |
|
|
rs1407655504 CA345425640 |
459 | K>N | No |
ClinGen gnomAD |
|
|
CA1475930 rs754856788 |
459 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345425642 rs1449911084 |
460 | E>K | No |
ClinGen gnomAD |
|
|
rs747913903 CA1475932 |
461 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1475931 rs200010516 |
461 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1323678827 CA345425698 |
465 | K>N | No |
ClinGen TOPMed |
|
|
CA1475934 rs773472652 |
465 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs749448205 CA1475935 |
468 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200936697 CA39885400 |
468 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs771105124 CA1475936 |
469 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1475937 rs775049483 |
471 | T>N | No |
ClinGen ExAC |
|
|
CA1475938 rs760141928 |
472 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1475939 rs768029428 |
473 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA39885422 rs201890805 |
475 | I>N | No |
ClinGen Ensembl |
|
|
rs1201867951 CA345426304 |
476 | T>I | No |
ClinGen gnomAD |
|
|
rs953163529 CA39885425 |
477 | K>N | No |
ClinGen Ensembl |
|
|
CA1475941 rs761087495 |
478 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775730263 CA1475940 |
478 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748691749 CA1475942 |
481 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 482 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39885451 rs201149322 |
486 | E>Q | No |
ClinGen Ensembl |
|
|
rs1475331331 CA345426519 |
487 | K>N | No |
ClinGen gnomAD |
|
|
rs202208046 CA1475945 |
495 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA39885479 rs903730617 COSM2149955 |
495 | A>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA345426698 rs144917572 |
496 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144917572 CA1475947 |
496 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1475948 rs781128679 |
498 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 498 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325633108 CA345426807 |
501 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345426815 rs1325633108 |
501 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 506 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 507 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39885510 rs200534271 |
511 | V>A | No |
ClinGen Ensembl |
|
|
rs755937525 CA1475950 |
517 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 520 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558234055 CA345427321 |
521 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 522 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469836300 CA345427364 |
522 | P>S | No |
ClinGen TOPMed |
|
|
CA1475953 rs201983181 |
524 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1475952 rs749499292 |
524 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 528 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM384714 rs1302348516 CA345427524 |
529 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1475955 rs745877258 |
533 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs772511456 CA1475956 |
535 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA39885592 rs968297663 |
535 | I>M | No |
ClinGen Ensembl |
|
|
CA1475959 rs200289455 |
539 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345427715 rs1363837726 |
539 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
COSM1690012 rs1361871745 CA345427748 |
540 | N>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs762623405 CA345427790 |
542 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1475961 rs762623405 |
542 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1288987895 CA345427899 |
550 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 550 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345427944 rs1336414257 |
552 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA345427948 rs1241297304 |
553 | T>A | No |
ClinGen gnomAD |
|
|
rs200598479 CA39885665 |
553 | T>I | No |
ClinGen Ensembl |
|
|
rs200598479 CA39885672 |
553 | T>N | No |
ClinGen Ensembl |
|
|
rs777733410 CA1475968 |
562 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 563 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146699885 CA39885700 |
563 | C>R | No |
ClinGen ESP TOPMed |
|
|
rs540424009 CA1475969 |
563 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345428224 rs1489972278 |
565 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 567 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751548647 | 567 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222391293 CA345428284 |
567 | K>R | No |
ClinGen gnomAD |
|
| rs751548647 | 568 | R>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345428299 rs1335666133 |
568 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1475973 rs779263285 |
569 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345428315 rs779263285 |
569 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199641293 CA1475974 COSM239325 |
569 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1475975 rs564889778 |
570 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1481099433 CA345428382 |
572 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 573 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345428499 rs1165129538 |
576 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345428513 rs1307339238 |
576 | R>T | No |
ClinGen TOPMed |
|
|
CA345428524 rs1383151839 |
577 | Q>E | No |
ClinGen gnomAD |
|
|
CA345428549 rs1423837034 |
578 | S>L | No |
ClinGen gnomAD |
|
|
CA345428580 rs1398555662 |
579 | V>A | No |
ClinGen gnomAD |
|
|
rs769107948 CA1475978 |
581 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1475979 rs776982092 |
584 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1296073 rs532452227 CA1475980 |
584 | R>H | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1475982 COSM3356546 rs189146647 |
585 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs759011572 CA1475983 |
586 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1245715742 CA345428727 |
586 | P>S | No |
ClinGen gnomAD |
|
|
CA1475986 COSM3377065 rs760697801 |
587 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs764058084 CA1475987 |
588 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1475988 rs201512973 |
589 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with P20309
[MIM: 100100]: Prune belly syndrome (PBS)
A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities. {ECO:0000269|PubMed:22077972}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities. {ECO:0000269|PubMed:22077972}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 regional properties for P20309
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Annexin repeat, conserved site | 59 - 111 | IPR018252-1 |
| conserved_site | Annexin repeat, conserved site | 131 - 183 | IPR018252-2 |
| conserved_site | Annexin repeat, conserved site | 290 - 342 | IPR018252-3 |
| repeat | Annexin repeat | 42 - 113 | IPR018502-1 |
| repeat | Annexin repeat | 114 - 185 | IPR018502-2 |
| repeat | Annexin repeat | 197 - 269 | IPR018502-3 |
| repeat | Annexin repeat | 273 - 344 | IPR018502-4 |
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| basal plasma membrane | The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetylcholine binding | Binding to acetylcholine, an acetic acid ester of the organic base choline that functions as a neurotransmitter, released at the synapses of parasympathetic nerves and at neuromuscular junctions. |
| G protein-coupled acetylcholine receptor activity | Combining with acetylcholine 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 serotonin receptor activity | Combining with the biogenic amine serotonin and transmitting the signal across the membrane by activating an associated G-protein. Serotonin (5-hydroxytryptamine) is a neurotransmitter and hormone found in vertebrates and invertebrates. |
| neurotransmitter receptor activity | Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. |
| phosphatidylinositol phospholipase C activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+). |
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| acetylcholine receptor signaling pathway | The series of molecular signals generated as a consequence of an acetylcholine receptor binding to one of its physiological ligands. |
| adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway | An adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway initiated by acetylcholine binding to its receptor, and ending with the regulation of a downstream cellular process. |
| calcium-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| G protein-coupled acetylcholine receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by a ligand binding to an acetylcholine receptor on the surface of a target cell, and ends with regulation of a downstream cellular process, e.g. transcription. |
| 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. |
| G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of a nucleotide cyclase activity and a subsequent change in the concentration of a cyclic nucleotide. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| positive regulation of smooth muscle contraction | Any process that activates or increases the frequency, rate or extent of smooth muscle contraction. |
| protein modification process | The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). |
| regulation of ion transmembrane transporter activity | Any process that modulates the activity of an ion transporter. |
| regulation of vascular associated smooth muscle contraction | Any process that increases the frequency, rate or extent of vascular smooth muscle contraction. |
| saliva secretion | The regulated release of saliva from the salivary glands. In man, the saliva is a turbid and slightly viscous fluid, generally of an alkaline reaction, and is secreted by the parotid, submaxillary, and sublingual glands. In the mouth the saliva is mixed with the secretion from the buccal glands. In man and many animals, saliva is an important digestive fluid on account of the presence of the peculiar enzyme, ptyalin. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| smooth muscle contraction | A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length. |
29 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P30546 | HRH1 | Histamine H1 receptor | Bos taurus (Bovine) | PR |
| P41985 | CHRM2 | Muscarinic acetylcholine receptor M2 | Bos taurus (Bovine) | PR |
| P41984 | CHRM3 | Muscarinic acetylcholine receptor M3 | Bos taurus (Bovine) | PR |
| P17200 | CHRM4 | Muscarinic acetylcholine receptor M4 | Gallus gallus (Chicken) | PR |
| P30372 | CHRM2 | Muscarinic acetylcholine receptor M2 | Gallus gallus (Chicken) | PR |
| P49578 | CHRM3 | Muscarinic acetylcholine receptor M3 | Gallus gallus (Chicken) | PR |
| Q5IS53 | CHRM5 | Muscarinic acetylcholine receptor M5 | Pan troglodytes (Chimpanzee) | PR |
| P08172 | CHRM2 | Muscarinic acetylcholine receptor M2 | Homo sapiens (Human) | PR |
| P08173 | CHRM4 | Muscarinic acetylcholine receptor M4 | Homo sapiens (Human) | PR |
| P08912 | CHRM5 | Muscarinic acetylcholine receptor M5 | Homo sapiens (Human) | PR |
| P35367 | HRH1 | Histamine H1 receptor | Homo sapiens (Human) | PR |
| P08908 | HTR1A | 5-hydroxytryptamine receptor 1A | Homo sapiens (Human) | PR |
| Q9H3N8 | HRH4 | Histamine H4 receptor | Homo sapiens (Human) | PR |
| P11229 | CHRM1 | Muscarinic acetylcholine receptor M1 | Homo sapiens (Human) | PR |
| P70174 | Hrh1 | Histamine H1 receptor | Mus musculus (Mouse) | PR |
| P12657 | Chrm1 | Muscarinic acetylcholine receptor M1 | Mus musculus (Mouse) | PR |
| P32211 | Chrm4 | Muscarinic acetylcholine receptor M4 | Mus musculus (Mouse) | PR |
| Q920H4 | Chrm5 | Muscarinic acetylcholine receptor M5 | Mus musculus (Mouse) | PR |
| Q9ERZ4 | Chrm2 | Muscarinic acetylcholine receptor M2 | Mus musculus (Mouse) | PR |
| Q9ERZ3 | Chrm3 | Muscarinic acetylcholine receptor M3 | Mus musculus (Mouse) | PR |
| P04761 | CHRM1 | Muscarinic acetylcholine receptor M1 | Sus scrofa (Pig) | PR |
| P11483 | CHRM3 | Muscarinic acetylcholine receptor M3 | Sus scrofa (Pig) | PR |
| P31390 | Hrh1 | Histamine H1 receptor | Rattus norvegicus (Rat) | PR |
| P08482 | Chrm1 | Muscarinic acetylcholine receptor M1 | Rattus norvegicus (Rat) | PR |
| P08911 | Chrm5 | Muscarinic acetylcholine receptor M5 | Rattus norvegicus (Rat) | PR |
| P08483 | Chrm3 | Muscarinic acetylcholine receptor M3 | Rattus norvegicus (Rat) | PR |
| P56489 | CHRM1 | Muscarinic acetylcholine receptor M1 | Macaca mulatta (Rhesus macaque) | PR |
| P56490 | CHRM5 | Muscarinic acetylcholine receptor M5 | Macaca mulatta (Rhesus macaque) | PR |
| Q9U7D5 | gar-3 | Muscarinic acetylcholine receptor gar-3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTLHNNSTTS | PLFPNISSSW | IHSPSDAGLP | PGTVTHFGSY | NVSRAAGNFS | SPDGTTDDPL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGHTVWQVVF | IAFLTGILAL | VTIIGNILVI | VSFKVNKQLK | TVNNYFLLSL | ACADLIIGVI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SMNLFTTYII | MNRWALGNLA | CDLWLAIDYV | ASNASVMNLL | VISFDRYFSI | TRPLTYRAKR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TTKRAGVMIG | LAWVISFVLW | APAILFWQYF | VGKRTVPPGE | CFIQFLSEPT | ITFGTAIAAF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YMPVTIMTIL | YWRIYKETEK | RTKELAGLQA | SGTEAETENF | VHPTGSSRSC | SSYELQQQSM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KRSNRRKYGR | CHFWFTTKSW | KPSSEQMDQD | HSSSDSWNNN | DAAASLENSA | SSDEEDIGSE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TRAIYSIVLK | LPGHSTILNS | TKLPSSDNLQ | VPEEELGMVD | LERKADKLQA | QKSVDDGGSF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PKSFSKLPIQ | LESAVDTAKT | SDVNSSVGKS | TATLPLSFKE | ATLAKRFALK | TRSQITKRKR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MSLVKEKKAA | QTLSAILLAF | IITWTPYNIM | VLVNTFCDSC | IPKTFWNLGY | WLCYINSTVN |
| 550 | 560 | 570 | 580 | ||
| PVCYALCNKT | FRTTFKMLLL | CQCDKKKRRK | QQYQQRQSVI | FHKRAPEQAL |