Q15825
PR
Gene name |
CHRNA6 |
Protein name |
Neuronal acetylcholine receptor subunit alpha-6 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8973 |
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 Q15825
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15825-F1 | Predicted | AlphaFoldDB |
423 variants for Q15825
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1292521572 CA371106834 |
4 | S>G | No |
ClinGen gnomAD |
|
|
rs970878049 CA176020270 |
4 | S>I | No |
ClinGen TOPMed |
|
|
CA371106804 rs1178800692 |
6 | G>E | No |
ClinGen TOPMed |
|
|
CA371106790 rs1189031065 |
7 | Q>P | No |
ClinGen gnomAD |
|
|
CA371106766 rs1248313490 |
8 | G>V | No |
ClinGen TOPMed |
|
|
rs1213154571 CA371106729 |
11 | H>Q | No |
ClinGen gnomAD |
|
|
rs754696130 CA4734492 |
11 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751417062 CA4734491 |
12 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4734490 rs200229186 |
15 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA176020260 rs202025303 |
15 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA176020258 rs1012412400 |
16 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA176020254 rs952380979 |
17 | W>* | No |
ClinGen TOPMed |
|
|
CA371106611 rs1232173139 |
17 | W>* | No |
ClinGen gnomAD |
|
|
rs150939999 CA4734489 |
17 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1563627945 CA371106571 |
19 | C>W | No |
ClinGen Ensembl |
|
|
CA176020250 rs200023923 |
19 | C>Y | No |
ClinGen Ensembl |
|
|
CA4734487 rs202231701 |
20 | V>M | No |
ClinGen Ensembl |
|
|
rs1210920131 CA371106523 |
21 | F>S | No |
ClinGen Ensembl |
|
|
CA371106479 rs1298967345 |
23 | P>L | No |
ClinGen gnomAD |
|
|
rs141199708 CA4734486 |
26 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371106420 rs1437779731 |
26 | K>T | No |
ClinGen gnomAD |
|
|
rs199661937 CA4734470 |
27 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371108408 rs1265938441 |
29 | V>A | No |
ClinGen TOPMed |
|
|
CA4734469 COSM1201127 rs779903018 |
32 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1489308 rs1424156589 CA371108372 |
34 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA176056840 rs199915060 |
36 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199915060 RCV000909206 CA4734468 |
36 | R>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs750356194 CA4734467 |
37 | L>P | No |
ClinGen ExAC |
|
|
rs1053179817 CA176056830 |
38 | F>L | No |
ClinGen TOPMed |
|
|
rs1485439517 CA371108303 |
40 | K>N | No |
ClinGen gnomAD |
|
|
CA371108309 rs1186115768 |
40 | K>R | No |
ClinGen gnomAD |
|
|
CA176056820 rs938862644 |
41 | L>R | No |
ClinGen Ensembl |
|
|
CA371108277 rs1207304276 |
42 | F>L | No |
ClinGen gnomAD |
|
|
rs140930963 CA4734466 |
43 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4734465 rs201193166 |
44 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA176056793 rs201193166 |
44 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246033398 CA371108246 |
45 | Y>D | No |
ClinGen gnomAD |
|
|
CA4734464 rs80342906 |
46 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4734463 rs577392421 |
49 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371108155 rs969485351 |
51 | P>A | No |
ClinGen gnomAD |
|
|
CA176056776 rs969485351 |
51 | P>T | No |
ClinGen gnomAD |
|
|
CA371108136 rs1181599970 |
52 | V>G | No |
ClinGen TOPMed |
|
|
rs1563626942 CA371108143 |
52 | V>M | No |
ClinGen Ensembl |
|
|
rs143970583 CA4734459 |
55 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149966755 CA4734457 |
57 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458311976 CA371108050 |
58 | P>S | No |
ClinGen gnomAD |
|
|
CA4734454 rs201222770 |
60 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs747611447 CA4734455 |
60 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371107975 rs1294856478 |
63 | F>S | No |
ClinGen gnomAD |
|
|
rs1184151318 CA371107958 |
64 | E>G | No |
ClinGen gnomAD |
|
|
CA4734452 rs746661270 |
65 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4734453 rs139682260 |
65 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1210978974 CA371107935 |
66 | A>T | No |
ClinGen gnomAD |
|
|
CA4734451 rs199896509 |
66 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758160316 CA371107923 |
67 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA4734450 rs758160316 |
67 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA371107904 rs1333773919 |
68 | T>I | No |
ClinGen gnomAD |
|
|
CA371107907 rs1213455048 |
68 | T>S | No |
ClinGen gnomAD |
|
|
rs778775487 CA4734448 |
69 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1586428843 CA371107855 |
72 | N>H | No |
ClinGen Ensembl |
|
|
CA176056656 rs1039700407 |
72 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4734444 rs375802894 |
73 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA371106250 rs1436635001 |
75 | E>D | No |
ClinGen gnomAD |
|
|
rs1173291808 CA371106253 |
75 | E>G | No |
ClinGen gnomAD |
|
|
rs1384520170 CA371106256 |
75 | E>Q | No |
ClinGen gnomAD |
|
|
rs1393846803 CA371106246 |
76 | V>G | No |
ClinGen gnomAD |
|
|
rs947747542 CA176053067 |
80 | M>T | No |
ClinGen gnomAD |
|
|
CA4734427 rs199556613 |
80 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371106195 rs1476995036 |
83 | N>S | No |
ClinGen TOPMed |
|
|
CA581628851 rs1191400306 |
84 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs751636774 CA4734425 |
84 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1444995364 CA371106179 |
85 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 86 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734423 COSM3432444 rs201337765 |
87 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs750749188 CA4734422 |
87 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201337765 CA4734424 |
87 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4734421 rs765710849 |
88 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1486350968 CA371106166 |
88 | H>Y | No |
ClinGen gnomAD |
|
|
rs1193895968 CA371105912 |
89 | I>T | No |
ClinGen gnomAD |
|
|
CA371105915 rs1275000948 |
89 | I>V | No |
ClinGen gnomAD |
|
|
CA176051755 rs771793966 |
90 | W>C | No |
ClinGen Ensembl |
|
|
rs199635862 CA176051751 |
91 | N>K | No |
ClinGen Ensembl |
|
|
rs146332801 CA4734399 |
92 | D>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs924570495 CA176051750 |
92 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs745521586 CA4734398 |
96 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4734396 rs188620180 |
96 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188620180 CA4734397 |
96 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734395 rs202156793 |
97 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 98 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411620647 CA371105837 |
100 | M>K | No |
ClinGen TOPMed |
|
|
rs76092830 CA4734394 |
100 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200380236 CA4734393 |
101 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA176051700 rs202058490 |
104 | G>D | No |
ClinGen TOPMed |
|
|
rs202058490 CA176051699 |
104 | G>V | No |
ClinGen TOPMed |
|
|
CA176051693 rs201382342 |
105 | I>T | No |
ClinGen TOPMed |
|
|
COSM3663767 CA4734391 rs762757187 |
105 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4734390 rs772909612 |
106 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA371105799 rs772909612 |
106 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA176051675 rs199882168 |
107 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4734389 rs376053270 |
108 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748108347 CA4734388 |
109 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs892284569 COSM1100070 CA176051666 |
109 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4734386 rs200852535 |
110 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74376609 CA4734387 |
110 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 112 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734385 rs141518931 COSM1100069 |
112 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779230403 CA4734384 |
113 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907337035 CA176051652 |
113 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 113 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734383 rs757453851 |
116 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4734382 rs754167856 |
119 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371105696 rs1375663880 |
122 | L>P | No |
ClinGen gnomAD |
|
|
rs1277790168 CA371105690 |
123 | Y>C | No |
ClinGen gnomAD |
|
|
rs200592176 CA176051615 COSM750309 |
124 | N>D | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs749461734 CA4734364 |
125 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA4734381 rs199650282 |
125 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs756407019 CA4734363 |
127 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4734362 rs756407019 |
127 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748564975 CA4734361 |
130 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs748564975 CA371105634 |
130 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371105618 rs1156389056 |
132 | V>G | No |
ClinGen gnomAD |
|
|
CA4734360 rs781631069 |
133 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs755513435 CA371105606 |
134 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs755513435 CA4734359 |
134 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA371105586 rs1586424678 |
137 | K>R | No |
ClinGen Ensembl |
|
|
rs1175476217 CA371105575 |
139 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734356 rs201720371 |
143 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371105545 rs1392438389 |
143 | N>S | No |
ClinGen Ensembl |
|
|
rs1186881316 CA371105541 |
144 | G>S | No |
ClinGen gnomAD |
|
|
CA371105527 rs1274168912 |
145 | M>I | No |
ClinGen TOPMed |
|
|
CA371105532 rs1240549357 |
145 | M>T | No |
ClinGen gnomAD |
|
|
CA371105516 rs1381221205 |
147 | T>N | No |
ClinGen gnomAD |
|
|
CA176051483 rs919417562 |
148 | W>* | No |
ClinGen TOPMed |
|
|
rs1287244765 CA371105511 |
148 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs764989489 CA4734354 |
149 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1486057766 CA371105495 |
150 | P>L | No |
ClinGen gnomAD |
|
|
CA4734353 rs761650753 |
151 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA371105488 rs776597137 |
152 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4734352 rs776597137 |
152 | A>T | No |
ClinGen ExAC gnomAD |
|
| rs35592906 | 155 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734351 rs764054092 |
155 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1586424632 CA371105462 |
156 | S>R | No |
ClinGen Ensembl |
|
|
CA4734350 rs373147726 |
156 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4734349 rs775552140 |
157 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371105452 rs775552140 |
157 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773288237 CA4734346 |
158 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1017343652 CA176051443 |
159 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1375547876 CA371105443 |
159 | P>S | No |
ClinGen gnomAD |
|
|
rs202201450 CA176051436 |
160 | M>L | No |
ClinGen Ensembl |
|
|
CA371105434 rs1563624127 |
160 | M>T | No |
ClinGen Ensembl |
|
|
CA176051419 rs1007830583 |
163 | T>N | No |
ClinGen Ensembl |
|
|
rs781543564 CA4734342 |
164 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs892949999 CA176051375 |
165 | F>S | No |
ClinGen Ensembl |
|
| rs774808608 | 165 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866356960 CA176051354 |
168 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs747459603 CA4734339 |
170 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1384963245 CA371105361 |
170 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs79945499 CA4734338 |
171 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186167138 CA371105355 |
171 | N>S | No |
ClinGen gnomAD |
|
|
CA4734336 rs749970855 |
172 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs757816015 CA4734337 |
172 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs777615925 CA371105342 |
173 | S>C | No |
ClinGen gnomAD |
|
|
CA176051303 rs777615925 |
173 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1563624088 CA371105335 |
175 | K>E | No |
ClinGen Ensembl |
|
|
rs201127531 CA4734334 |
177 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1401153332 CA371105310 |
178 | S>F | No |
ClinGen TOPMed |
|
|
rs753627072 CA4734333 |
179 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1569044 rs200478711 CA4734332 |
180 | T>M | Variant assessed as Somatic; 4.624e-05 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs200745568 CA4734330 |
184 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1184329212 CA371105262 |
185 | E>D | No |
ClinGen gnomAD |
|
|
rs267601934 CA176051215 |
185 | E>K | No |
ClinGen Ensembl |
|
|
rs767534563 CA4734329 |
186 | I>T | No |
ClinGen ExAC |
|
|
rs1412357303 CA371105258 |
186 | I>V | No |
ClinGen gnomAD |
|
|
rs1563624058 CA371105249 |
187 | D>V | No |
ClinGen Ensembl |
|
|
CA176051201 rs199955670 |
191 | I>T | No |
ClinGen Ensembl |
|
|
CA4734324 rs545769727 |
193 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4734325 rs762037634 |
193 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201856103 CA176051174 |
194 | K>T | No |
ClinGen Ensembl |
|
|
rs1348850134 CA371105186 |
197 | M>K | No |
ClinGen TOPMed |
|
|
CA371105182 rs1185963813 |
198 | N>H | No |
ClinGen gnomAD |
|
|
rs372469952 CA371105173 |
199 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372469952 CA4734321 |
199 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772665574 CA4734320 |
202 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs143385261 CA4734319 |
203 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA176051156 rs199627128 |
205 | E>A | No |
ClinGen TOPMed |
|
|
CA581928887 rs1274627299 |
206 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs56315032 CA4734317 |
207 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1563624009 CA371105109 |
207 | E>G | No |
ClinGen Ensembl |
|
|
CA176051143 rs910018042 |
208 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs753533097 CA4734316 |
209 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1187376268 CA371105048 |
216 | H>L | No |
ClinGen TOPMed |
|
|
rs200667694 CA176051117 |
218 | I>F | No |
ClinGen Ensembl |
|
| TCGA novel | 219 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 220 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393071489 CA371105021 |
220 | Y>N | No |
ClinGen gnomAD |
|
|
CA371105011 rs1371088716 |
221 | N>Y | No |
ClinGen gnomAD |
|
|
rs1330494992 CA371105004 |
222 | C>R | No |
ClinGen gnomAD |
|
|
rs1441340377 CA371104998 |
222 | C>W | No |
ClinGen gnomAD |
|
|
rs1397011499 CA371104985 |
224 | E>G | No |
ClinGen gnomAD |
|
|
CA4734311 rs199987912 |
226 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455197127 CA371104965 |
227 | Y>H | No |
ClinGen TOPMed |
|
|
rs368839862 CA4734310 |
228 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 228 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs574697613 CA4734309 |
228 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4734308 rs761949537 |
229 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 229 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734307 rs776803911 |
230 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA176051068 rs776803911 |
230 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4734306 rs373761304 |
231 | T>I | No |
ClinGen ESP ExAC |
|
|
rs1250400989 CA371104932 |
232 | Y>* | No |
ClinGen gnomAD |
|
|
CA4734305 rs369966241 |
233 | S>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs369966241 CA4734304 |
233 | S>F | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs746371215 CA4734302 |
236 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4734303 rs534708905 |
236 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 238 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200497100 CA4734301 |
240 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371104881 rs200497100 |
240 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371104875 rs1315108119 |
241 | M>T | No |
ClinGen gnomAD |
|
|
rs199671238 CA4734298 |
243 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4734299 rs199671238 |
243 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4734297 rs138339131 |
244 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4734296 rs138339131 |
244 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs754789848 CA4734294 |
246 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA4734293 rs751495876 |
250 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA176051011 rs751495876 |
250 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200987418 CA176051019 |
250 | P>S | No |
ClinGen gnomAD |
|
|
rs1290756717 CA371104811 |
251 | C>F | No |
ClinGen gnomAD |
|
|
rs1392196914 CA371104797 |
253 | F>C | No |
ClinGen Ensembl |
|
|
CA4734292 rs766345085 |
255 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371104782 rs1379724177 |
256 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 257 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs41265264 CA4734289 |
259 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371104761 rs41265264 |
259 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373928428 CA371104762 |
259 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373928428 CA4734290 |
259 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4734288 rs760963856 |
260 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA4734287 rs775630227 |
263 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371104731 rs1261969063 |
264 | L>V | No |
ClinGen gnomAD |
|
|
CA176050962 rs201796500 |
265 | P>A | No |
ClinGen Ensembl |
|
|
COSM1100063 rs201295503 CA4734286 |
266 | S>L | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs774973747 COSM454595 CA4734284 |
267 | D>Y | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 272 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371104678 rs771583412 |
272 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771583412 CA4734283 |
272 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4734281 rs144350308 |
273 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4734279 rs747826040 |
277 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1423765299 CA371104641 |
278 | V>F | No |
ClinGen gnomAD |
|
|
rs1359993781 CA371104634 |
279 | L>P | No |
ClinGen gnomAD |
|
|
CA4734277 rs780776442 |
282 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1352342531 CA371104615 |
283 | T>A | No |
ClinGen Ensembl |
|
|
CA371104608 rs1374160038 |
284 | V>L | No |
ClinGen gnomAD |
|
|
CA371104595 rs1323564212 |
286 | L>V | No |
ClinGen TOPMed |
|
|
rs373608967 CA176050874 |
288 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs544312612 CA176050844 |
289 | I>F | No |
ClinGen TOPMed |
|
|
rs544312612 CA176050853 |
289 | I>V | No |
ClinGen TOPMed |
|
|
CA176050836 rs894446733 |
291 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 294 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763093183 CA176050814 |
295 | S>F | No |
ClinGen gnomAD |
|
|
rs200072442 CA176050803 |
296 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs753856041 CA4734271 |
296 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA176050807 rs200072442 |
296 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4734270 COSM256624 rs371233399 |
297 | S>Y | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 299 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142629147 CA4734269 |
300 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142629147 CA371104514 |
300 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1271655539 CA371104518 |
300 | V>L | No |
ClinGen gnomAD |
|
|
rs760634963 CA176050769 |
304 | G>C | No |
ClinGen Ensembl |
|
|
CA176050764 rs199921540 |
304 | G>V | No |
ClinGen Ensembl |
|
|
rs1416675138 CA371104486 CA371104487 |
305 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1294417545 CA4734265 |
305 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 307 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734263 rs201852908 |
307 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA371104471 rs1264415609 |
308 | L>Q | No |
ClinGen TOPMed |
|
|
rs773917226 CA4734260 |
310 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA176050732 rs200829161 |
311 | M>L | No |
ClinGen gnomAD |
|
|
rs989145751 CA4734258 |
312 | I>M | No |
ClinGen TOPMed |
|
|
rs35812517 CA176050722 |
314 | V>G | No |
ClinGen Ensembl |
|
|
rs1318474382 CA371104428 |
315 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4734257 rs769343905 |
317 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs888527245 CA176050712 |
318 | I>T | No |
ClinGen gnomAD |
|
|
rs1164010419 CA371104412 |
318 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 319 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200331504 CA4734256 |
319 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1475918111 CA371104394 |
321 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1235188547 CA371104385 |
322 | V>A | No |
ClinGen gnomAD |
|
|
rs1310032653 CA371104389 |
322 | V>M | No |
ClinGen TOPMed |
|
|
rs776324742 CA4734255 |
323 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4734254 rs185610062 |
325 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376849555 CA371104355 |
327 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371104351 rs1586424093 |
327 | I>M | No |
ClinGen Ensembl |
|
|
rs1196511863 CA371104352 |
327 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs376849555 CA4734253 |
327 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4734252 rs779838446 |
328 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758246174 CA371104340 |
329 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4734251 rs758246174 |
329 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA176050657 rs745799927 |
330 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs982008922 CA176050652 |
330 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4734250 rs745799927 |
330 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976951248 CA176050639 |
331 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4734249 rs778753253 |
332 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs201530242 CA4734248 |
333 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4734247 rs200513077 |
334 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199691486 CA4734245 |
336 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 336 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4734242 rs763481468 |
338 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA371104283 rs1410996394 |
339 | R>T | No |
ClinGen gnomAD |
|
|
CA371104279 rs1181169424 |
340 | W>R | No |
ClinGen TOPMed |
|
|
rs201193214 CA176050602 |
342 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1234510279 CA371104253 |
343 | T>R | No |
ClinGen gnomAD |
|
|
rs1176587004 CA371104248 |
344 | V>D | No |
ClinGen gnomAD |
|
|
CA371104233 rs1253344186 |
346 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372377533 CA4734241 |
349 | L>P | No |
ClinGen ESP ExAC |
|
|
CA371104213 rs1215806027 |
350 | P>S | No |
ClinGen gnomAD |
|
|
rs148473463 CA4734240 |
351 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371104197 rs1586424023 |
352 | V>G | No |
ClinGen Ensembl |
|
|
CA371104191 rs1307749459 |
354 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs146758501 CA4734237 |
355 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4734236 rs760306390 |
356 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775188873 CA4734235 |
357 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1015162630 CA176050573 CA371104147 |
360 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1322359932 CA371104128 |
363 | R>M | No |
ClinGen gnomAD |
|
| TCGA novel | 364 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371104125 rs1400751721 |
364 | G>S | No |
ClinGen gnomAD |
|
|
CA4734234 rs771821259 |
365 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4734233 rs745708157 |
368 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs778858240 CA4734232 |
369 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA176050557 rs200235440 |
371 | P>L | No |
ClinGen Ensembl |
|
|
CA4734230 rs148005281 |
371 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1199067757 CA371104073 |
373 | G>S | No |
ClinGen gnomAD |
|
|
CA371104067 rs781148492 |
374 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4734229 rs781148492 |
374 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs755171508 CA4734228 |
375 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs967179925 CA176050550 |
375 | A>V | No |
ClinGen Ensembl |
|
|
rs751829318 CA4734227 |
376 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202064963 CA176050524 |
377 | R>K | No |
ClinGen gnomAD |
|
|
rs1363994011 CA371104041 |
378 | P>L | No |
ClinGen TOPMed |
|
|
rs780465151 CA4734226 |
379 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA4734225 rs758816455 |
384 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA371104001 rs1306159308 |
385 | S>G | No |
ClinGen gnomAD |
|
|
CA371103996 rs1217810067 |
385 | S>R | No |
ClinGen gnomAD |
|
|
CA176050515 rs1024240469 |
386 | H>R | No |
ClinGen gnomAD |
|
|
CA371103981 rs1248203431 |
388 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA371103969 rs765736119 |
389 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765736119 CA4734223 |
389 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs762239006 CA4734222 |
391 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | H>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371103959 rs1197760281 |
391 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs754425823 CA4734221 |
392 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA371103939 rs1261203616 |
394 | E>* | No |
ClinGen TOPMed |
|
|
CA371103937 rs1419094680 |
394 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA371103936 rs1419094680 |
394 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4734220 rs375308043 |
396 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775098974 CA4734218 |
397 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4734219 rs760216470 |
397 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 399 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187339289 CA371103904 |
399 | H>Y | No |
ClinGen gnomAD |
|
|
CA371103895 rs1476473678 |
400 | K>E | No |
ClinGen gnomAD |
|
|
CA176050487 rs894469999 |
401 | S>* | No |
ClinGen Ensembl |
|
|
CA4734217 rs199981801 |
402 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1486312222 CA371103875 |
403 | E>K | No |
ClinGen gnomAD |
|
|
rs1050651669 CA176050475 |
405 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4734214 rs770847142 |
406 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs144179003 CA4734213 |
408 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194462672 CA371103787 |
415 | P>L | No |
ClinGen TOPMed |
|
|
CA176050438 rs201030441 |
418 | W>* | No |
ClinGen Ensembl |
|
|
rs139568359 COSM274544 CA4734211 |
423 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4734209 rs554811242 |
425 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371103720 rs1563623571 |
425 | H>Y | No |
ClinGen Ensembl |
|
|
CA4734207 rs144573255 |
426 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1356059742 CA371103713 |
426 | S>P | No |
ClinGen gnomAD |
|
|
CA4734208 rs144573255 |
426 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4734205 rs200703945 |
429 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs757706465 CA4734204 |
431 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA176050399 rs934971009 |
432 | V>A | No |
ClinGen TOPMed |
|
|
rs146330757 CA4734202 |
437 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4734201 rs755568911 |
439 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371103607 rs1309062249 |
442 | N>D | No |
ClinGen gnomAD |
|
|
CA4734200 rs752232974 COSM3834754 |
443 | M>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA176050384 rs572202252 |
443 | M>T | No |
ClinGen 1000Genomes TOPMed |
|
|
CA176050378 rs199530109 |
444 | K>R | No |
ClinGen Ensembl |
|
|
CA371103570 rs1365096692 |
447 | N>H | No |
ClinGen TOPMed |
|
|
rs16891583 CA371103566 |
447 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs16891583 VAR_048171 CA4734199 |
447 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA176050368 rs901323193 |
450 | K>Q | No |
ClinGen Ensembl |
|
|
CA4734198 rs201566938 |
450 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243967511 CA371103408 |
452 | V>L | No |
ClinGen TOPMed |
|
|
CA371103400 rs1457448977 |
453 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs556036982 CA4734176 |
453 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773174628 CA4734175 |
454 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586422411 CA371103375 |
456 | W>* | No |
ClinGen Ensembl |
|
|
CA581627832 COSM2961999 rs1563622765 |
458 | Y>* | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA371103356 rs1371918246 |
459 | V>M | No |
ClinGen TOPMed |
|
|
CA371103348 rs1194653333 |
460 | A>T | No |
ClinGen gnomAD |
|
|
CA371103344 rs1268997182 |
461 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA176048833 rs1022227052 |
463 | V>A | No |
ClinGen TOPMed |
|
|
CA371103327 rs1441737282 |
463 | V>M | No |
ClinGen gnomAD |
|
|
CA176048830 rs776544169 |
466 | V>A | No |
ClinGen TOPMed |
|
|
rs1487891734 CA371103296 |
468 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746006983 CA4734169 |
472 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs771212852 CA4734167 |
473 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs774385978 CA4734168 |
473 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371103245 rs1202235066 |
475 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4734166 rs55662044 |
476 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4734165 rs778121297 |
477 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs868428586 CA176048808 |
478 | G>E | No |
ClinGen Ensembl |
|
|
rs770198289 CA4734164 |
479 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA176048806 rs202141415 |
479 | T>S | No |
ClinGen Ensembl |
|
|
CA4734163 rs748652876 |
482 | L>I | No |
ClinGen ExAC TOPMed |
|
|
rs1300106249 CA371103204 |
483 | F>L | No |
ClinGen gnomAD |
|
|
CA4734161 rs201034972 |
484 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA176048795 rs150660043 |
485 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 486 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432179844 CA371103171 |
488 | L>P | No |
ClinGen gnomAD |
|
|
rs371523970 CA176048788 |
489 | G>R | No |
ClinGen ESP |
|
|
CA4734156 rs750186865 |
490 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs761738595 CA4734154 |
491 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 493 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA176048759 rs200851744 |
493 | K>R | No |
ClinGen gnomAD |
|
|
CA371103143 rs200851744 |
493 | K>T | No |
ClinGen gnomAD |
|
|
CA4734152 rs764113730 |
494 | S>P | No |
ClinGen ExAC gnomAD |
No associated diseases with Q15825
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| acetylcholine-gated channel complex | A homo- or hetero-pentameric protein complex that forms a transmembrane channel through which ions may pass in response to acetylcholine binding. |
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| dopaminergic synapse | A synapse that uses dopamine as a neurotransmitter. |
| 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. |
| integral component of postsynaptic membrane | The component of the postsynaptic 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. |
| integral component of presynaptic membrane | The component of the presynaptic 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. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetylcholine receptor activity | Combining with an acetylcholine receptor ligand and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
| acetylcholine-gated cation-selective channel activity | Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine. |
| excitatory extracellular ligand-gated ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential. |
| neurotransmitter receptor activity | Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. |
| transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential | Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| ion transmembrane transport | A process in which an ion is transported across a membrane. |
| membrane depolarization | The process in which membrane potential decreases with respect to its steady-state potential, usually from negative potential to a more positive potential. For example, the initial depolarization during the rising phase of an action potential is in the direction from the negative steady-state resting potential towards the positive membrane potential that will be the peak of the action potential. |
| nervous system process | A organ system process carried out by any of the organs or tissues of neurological system. |
| regulation of dopamine secretion | Any process that modulates the frequency, rate or extent of the regulated release of dopamine. |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| regulation of synaptic vesicle exocytosis | Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis. |
| 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. |
37 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q07263 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | Bos taurus (Bovine) | PR |
| P04758 | CHRNB1 | Acetylcholine receptor subunit beta | Bos taurus (Bovine) | PR |
| Q8SPU7 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Bos taurus (Bovine) | PR |
| P09481 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | Gallus gallus (Chicken) | PR |
| P26152 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Gallus gallus (Chicken) | PR |
| Q9I8C7 | CHRNA10 | Neuronal acetylcholine receptor subunit alpha-10 | Gallus gallus (Chicken) | PR |
| P43679 | CHRNB3 | Neuronal acetylcholine receptor subunit beta-3 | Gallus gallus (Chicken) | PR |
| Q5IS75 | CHRNB3 | Neuronal acetylcholine receptor subunit beta-3 | Pan troglodytes (Chimpanzee) | PR |
| Q5IS76 | CHRNA6 | Neuronal acetylcholine receptor subunit alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| P25162 | nAChRbeta2 | Acetylcholine receptor subunit beta-like 2 | Drosophila melanogaster (Fruit fly) | PR |
| P14867 | GABRA1 | Gamma-aminobutyric acid receptor subunit alpha-1 | Homo sapiens (Human) | PR |
| O14764 | GABRD | Gamma-aminobutyric acid receptor subunit delta | Homo sapiens (Human) | PR |
| Q9UN88 | GABRQ | Gamma-aminobutyric acid receptor subunit theta | Homo sapiens (Human) | PR |
| P11230 | CHRNB1 | Acetylcholine receptor subunit beta | Homo sapiens (Human) | PR |
| Q05901 | CHRNB3 | Neuronal acetylcholine receptor subunit beta-3 | Homo sapiens (Human) | PR |
| P30532 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Homo sapiens (Human) | PR |
| P32297 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | Homo sapiens (Human) | PR |
| P48167 | GLRB | Glycine receptor subunit beta | Homo sapiens (Human) | PR |
| P23415 | GLRA1 | Glycine receptor subunit alpha-1 | Homo sapiens (Human) | PR |
| O75311 | GLRA3 | Glycine receptor subunit alpha-3 | Homo sapiens (Human) | PR |
| P23979 | Htr3a | 5-hydroxytryptamine receptor 3A | Mus musculus (Mouse) | PR |
| P04756 | Chrna1 | Acetylcholine receptor subunit alpha | Mus musculus (Mouse) | PR |
| P09690 | Chrnb1 | Acetylcholine receptor subunit beta | Mus musculus (Mouse) | PR |
| Q8BMN3 | Chrnb3 | Neuronal acetylcholine receptor subunit beta-3 | Mus musculus (Mouse) | PR |
| Q2MKA5 | Chrna5 | Neuronal acetylcholine receptor subunit alpha-5 | Mus musculus (Mouse) | PR |
| Q9R0W9 | Chrna6 | Neuronal acetylcholine receptor subunit alpha-6 | Mus musculus (Mouse) | PR |
| P43144 | Chrna9 | Neuronal acetylcholine receptor subunit alpha-9 | Rattus norvegicus (Rat) | PR |
| P35563 | Htr3a | 5-hydroxytryptamine receptor 3A | Rattus norvegicus (Rat) | PR |
| P12391 | Chrnb3 | Neuronal acetylcholine receptor subunit beta-3 | Rattus norvegicus (Rat) | PR |
| P04757 | Chrna3 | Neuronal acetylcholine receptor subunit alpha-3 | Rattus norvegicus (Rat) | PR |
| P25109 | Chrnb1 | Acetylcholine receptor subunit beta | Rattus norvegicus (Rat) | PR |
| P25108 | Chrna1 | Acetylcholine receptor subunit alpha | Rattus norvegicus (Rat) | PR |
| P20420 | Chrna5 | Neuronal acetylcholine receptor subunit alpha-5 | Rattus norvegicus (Rat) | PR |
| P43143 | Chrna6 | Neuronal acetylcholine receptor subunit alpha-6 | Rattus norvegicus (Rat) | PR |
| P54244 | deg-3 | Acetylcholine receptor subunit alpha-type deg-3 | Caenorhabditis elegans | PR |
| P54246 | acr-5 | Acetylcholine receptor subunit alpha-type acr-5 | Caenorhabditis elegans | PR |
| Q93149 | acr-3 | Acetylcholine receptor subunit beta-type acr-3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLTSKGQGFL | HGGLCLWLCV | FTPFFKGCVG | CATEERLFHK | LFSHYNQFIR | PVENVSDPVT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VHFEVAITQL | ANVDEVNQIM | ETNLWLRHIW | NDYKLRWDPM | EYDGIETLRV | PADKIWKPDI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLYNNAVGDF | QVEGKTKALL | KYNGMITWTP | PAIFKSSCPM | DITFFPFDHQ | NCSLKFGSWT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YDKAEIDLLI | IGSKVDMNDF | WENSEWEIID | ASGYKHDIKY | NCCEEIYTDI | TYSFYIRRLP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MFYTINLIIP | CLFISFLTVL | VFYLPSDCGE | KVTLCISVLL | SLTVFLLVIT | ETIPSTSLVV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PLVGEYLLFT | MIFVTLSIVV | TVFVLNIHYR | TPTTHTMPRW | VKTVFLKLLP | QVLLMRWPLD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KTRGTGSDAV | PRGLARRPAK | GKLASHGEPR | HLKECFHCHK | SNELATSKRR | LSHQPLQWVV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ENSEHSPEVE | DVINSVQFIA | ENMKSHNETK | EVEDDWKYVA | MVVDRVFLWV | FIIVCVFGTA |
| 490 | |||||
| GLFLQPLLGN | TGKS |