Q03721
PR
Gene name |
KCNC4 |
Protein name |
Potassium voltage-gated channel subfamily C member 4 |
Names |
KSHIIIC, Voltage-gated potassium channel subunit Kv3.4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3749 |
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
4 structures for Q03721
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1B4G | NMR | - | A | 1-30 | PDB |
| 1B4I | NMR | - | A | 1-30 | PDB |
| 1ZTN | NMR | - | A | 1-30 | PDB |
| AF-Q03721-F1 | Predicted | AlphaFoldDB |
516 variants for Q03721
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1166714383 CA341588701 |
3 | S>T | No |
ClinGen gnomAD |
|
|
CA341588708 rs1347867945 |
4 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA341588710 rs1347867945 |
4 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341588706 rs1221060260 |
4 | S>P | No |
ClinGen TOPMed |
|
|
rs775490508 CA998406 |
8 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775490508 CA341588734 |
8 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763639630 CA998408 |
9 | S>F | No |
ClinGen ExAC gnomAD |
|
| rs748484156 | 9 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341588745 rs1557849548 |
10 | Y>C | No |
ClinGen Ensembl |
|
|
rs149102895 CA998411 |
12 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341588762 rs1292555676 |
13 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 13 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320278912 CA341588764 |
13 | R>L | No |
ClinGen gnomAD |
|
|
rs1489329204 CA341588785 |
16 | G>V | No |
ClinGen gnomAD |
|
|
rs913923591 CA28763486 |
17 | N>K | No |
ClinGen Ensembl |
|
|
CA28763488 rs945927012 |
19 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755514721 CA998413 |
19 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA998415 rs779357026 |
20 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs758446326 CA998416 |
20 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA998414 rs779357026 |
20 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 22 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375782593 CA998419 |
22 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779660366 CA28763512 |
24 | C>W | No |
ClinGen ExAC |
|
|
rs1427073889 CA341588839 |
26 | K>Q | No |
ClinGen TOPMed |
|
|
rs533097583 CA998423 |
27 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341588862 rs1193654467 |
29 | M>L | No |
ClinGen TOPMed |
|
|
rs912348081 CA28763521 |
29 | M>T | No |
ClinGen Ensembl |
|
|
CA28763532 rs374585082 |
30 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs749221236 CA998425 |
34 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1017810707 CA998426 |
36 | E>K | No |
ClinGen TOPMed |
|
|
CA28763552 rs943849942 |
39 | I>V | No |
ClinGen TOPMed |
|
|
CA341588957 rs1281914365 |
42 | V>M | No |
ClinGen TOPMed |
|
|
CA341588967 rs1233174793 |
43 | G>R | No |
ClinGen TOPMed |
|
|
CA341588976 rs1336355784 |
44 | G>R | No |
ClinGen TOPMed |
|
|
CA341588992 rs1356525916 |
45 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs899572113 CA28763564 |
47 | H>D | No |
ClinGen TOPMed |
|
|
CA341589017 rs1283729196 |
47 | H>Q | No |
ClinGen gnomAD |
|
|
rs899572113 CA341589009 |
47 | H>Y | No |
ClinGen TOPMed |
|
|
rs1443056681 CA341589023 |
48 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA998431 rs761468792 |
50 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA998432 rs761468792 |
50 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1443806923 CA341589060 |
51 | R>S | No |
ClinGen gnomAD |
|
|
rs994937743 CA28763571 |
52 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 53 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765602937 CA998435 |
55 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1571017837 CA341589112 |
56 | T>P | No |
ClinGen Ensembl |
|
|
CA341589139 rs1331825937 |
58 | P>L | No |
ClinGen gnomAD |
|
|
rs764282684 CA998438 |
59 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA341589156 rs1447032415 |
60 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs891057468 CA28763579 |
60 | T>P | No |
ClinGen Ensembl |
|
|
CA341589157 rs1447032415 |
60 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA28763582 rs950751782 |
62 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 63 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364992435 CA341589202 |
64 | W>C | No |
ClinGen TOPMed |
|
|
rs1379564669 CA341589189 |
64 | W>G | No |
ClinGen gnomAD |
|
| TCGA novel | 66 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA998440 rs535148746 |
69 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341589273 rs1243344456 |
71 | G>R | No |
ClinGen TOPMed |
|
|
CA341589284 rs1461072390 |
72 | G>D | No |
ClinGen gnomAD |
|
|
rs1261315701 CA341589282 |
72 | G>R | No |
ClinGen gnomAD |
|
|
rs1456235470 CA341589290 |
73 | R>Q | No |
ClinGen gnomAD |
|
|
CA998442 rs746078372 |
73 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA28763598 rs917167958 |
74 | P>L | No |
ClinGen TOPMed |
|
|
rs1181006434 CA341589293 |
74 | P>S | No |
ClinGen gnomAD |
|
|
rs1571018024 CA341589307 |
76 | T>N | No |
ClinGen Ensembl |
|
|
rs200808980 CA341589311 |
77 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA998443 rs200808980 |
77 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 79 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341589329 rs1170346327 |
80 | G>S | No |
ClinGen gnomAD |
|
|
rs768527573 CA998447 |
82 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA341589341 rs1465874529 |
82 | G>S | No |
ClinGen gnomAD |
|
|
rs773855578 CA341589362 |
85 | G>C | No |
ClinGen ExAC TOPMed |
|
|
CA998449 rs773855578 |
85 | G>S | No |
ClinGen ExAC TOPMed |
|
|
rs1382664920 CA341589373 |
86 | S>R | No |
ClinGen TOPMed |
|
|
rs747724381 CA998450 |
88 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328804590 CA341589393 |
89 | G>V | No |
ClinGen gnomAD |
|
|
CA998453 rs772777425 |
91 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1260163639 CA341589428 |
94 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341589423 rs1442428879 |
94 | F>V | No |
ClinGen TOPMed |
|
|
rs1236038249 CA341589426 |
94 | F>Y | No |
ClinGen TOPMed |
|
|
CA341589443 rs1392267658 |
96 | F>L | No |
ClinGen gnomAD |
|
|
rs138654048 CA28763629 |
97 | D>E | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 99 | H>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292600140 CA341589498 |
104 | A>V | No |
ClinGen TOPMed |
|
|
rs765541885 CA998457 |
105 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998458 rs775866535 |
106 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs763555022 CA998459 |
108 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs764761061 CA998460 |
109 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA341589577 rs757459306 |
116 | H>Q | No |
ClinGen ExAC |
|
|
CA341589570 rs1227849259 |
116 | H>Y | No |
ClinGen TOPMed |
|
|
rs1344973245 CA341589597 |
119 | A>V | No |
ClinGen gnomAD |
|
|
rs1324953338 CA341589606 |
121 | V>M | No |
ClinGen gnomAD |
|
|
rs1226928423 CA341589645 |
126 | F>L | No |
ClinGen gnomAD |
|
|
CA998467 rs753602779 |
127 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA998468 rs754764777 |
127 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1220175116 CA341589660 |
129 | E>K | No |
ClinGen gnomAD |
|
|
rs1422263009 CA341589671 |
130 | L>H | No |
ClinGen TOPMed |
|
|
rs1304451702 CA341589669 |
130 | L>V | No |
ClinGen TOPMed |
|
|
CA341589691 rs1259021599 |
133 | W>L | No |
ClinGen gnomAD |
|
| TCGA novel | 135 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1412577174 CA341589716 |
136 | D>E | No |
ClinGen TOPMed |
|
|
rs1427628059 CA341589710 |
136 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341589755 rs1187800633 |
142 | P>S | No |
ClinGen gnomAD |
|
|
CA341589769 rs1162257771 |
144 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 144 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746654296 CA998473 |
147 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA998474 rs770550649 |
148 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1475937167 CA341589817 |
150 | Q>H | No |
ClinGen TOPMed |
|
|
rs534323144 CA998475 |
151 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1349133027 CA341589828 |
152 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763465266 CA998476 |
152 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA998478 rs200864094 |
157 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 159 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341589904 rs1314086292 |
160 | I>V | No |
ClinGen gnomAD |
|
|
CA341589921 rs1354378932 |
161 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA998479 rs762372316 |
162 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs762372316 CA341589929 |
162 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA341589927 rs1218703475 |
162 | E>Q | No |
ClinGen gnomAD |
|
|
CA341589950 rs1485227670 |
164 | P>T | No |
ClinGen gnomAD |
|
|
rs767520363 CA341589972 CA998480 |
166 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998481 rs750463399 |
167 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA998483 rs766690340 |
168 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28763708 rs766690340 |
168 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440919428 CA341590004 |
169 | S>N | No |
ClinGen gnomAD |
|
|
rs1557850526 CA341590027 |
171 | A>S | No |
ClinGen Ensembl |
|
|
rs578248405 CA998485 |
172 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1404684752 CA341590050 |
173 | P>L | No |
ClinGen gnomAD |
|
|
CA998487 rs752651945 |
173 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998488 rs987916927 |
174 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758272968 CA998490 |
174 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998491 rs201445851 |
174 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758272968 CA341590058 |
174 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746592039 CA998492 |
175 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1481501474 CA341590080 |
176 | E>A | No |
ClinGen gnomAD |
|
|
CA341590075 rs1285154341 |
176 | E>K | No |
ClinGen TOPMed |
|
|
CA998494 rs780944297 |
177 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745483916 CA998495 |
178 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs745483916 CA341590097 |
178 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1233279971 CA341590107 |
179 | D>N | No |
ClinGen gnomAD |
|
|
rs557569023 CA998496 |
180 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341590126 rs1571018992 |
180 | D>V | No |
ClinGen Ensembl |
|
|
CA998497 rs774810449 |
181 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA998498 rs762425176 |
182 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1202633942 CA341590147 |
182 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1179465395 CA341590192 |
185 | A>V | No |
ClinGen gnomAD |
|
|
CA341590195 rs1418597877 |
186 | L>V | No |
ClinGen gnomAD |
|
|
CA341590251 rs1175900129 |
191 | P>A | No |
ClinGen gnomAD |
|
|
CA341590257 rs1400767305 |
191 | P>L | No |
ClinGen gnomAD |
|
|
CA998504 rs759703247 |
192 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557850679 CA341590263 |
192 | H>Y | No |
ClinGen Ensembl |
|
|
rs1302856042 CA341590282 |
193 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA341590278 rs1387246859 |
193 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 193 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543075239 CA28763751 |
193 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1222536421 CA341590312 |
196 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341590317 rs1366211157 |
197 | G>D | No |
ClinGen TOPMed |
|
|
CA341590328 rs1258224942 |
198 | H>Q | No |
ClinGen gnomAD |
|
|
CA998506 rs752418958 |
199 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs758120447 CA998507 |
200 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28763755 rs1034105211 |
201 | G>A | No |
ClinGen TOPMed |
|
|
rs1333603242 CA341590358 |
201 | G>R | No |
ClinGen TOPMed |
|
|
rs764150342 CA998508 |
202 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1271160993 CA341590377 |
203 | G>E | No |
ClinGen gnomAD |
|
|
rs751429467 CA998509 |
204 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA341590417 rs1168106176 |
207 | G>D | No |
ClinGen gnomAD |
|
|
CA998512 rs559601912 |
207 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA998511 rs559601912 |
207 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1458397771 CA341590434 |
209 | Q>E | No |
ClinGen gnomAD |
|
|
CA998513 rs755770782 |
211 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs369424645 CA998514 |
211 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341590493 rs1413297584 |
214 | A>V | No |
ClinGen TOPMed |
|
|
CA998515 rs573144360 |
215 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341590517 rs1236571686 |
218 | D>Y | No |
ClinGen TOPMed |
|
|
CA998516 rs772314347 |
219 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA341590525 rs1342039519 |
219 | P>H | No |
ClinGen gnomAD |
|
|
rs545065543 CA28763785 |
220 | Y>C | No |
ClinGen 1000Genomes |
|
|
rs1046514070 CA341590559 |
223 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA28763792 rs1046514070 |
223 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747445400 CA998518 |
223 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341591606 rs1388702517 |
227 | V>I | No |
ClinGen gnomAD |
|
|
rs1190743250 CA341591629 |
229 | A>V | No |
ClinGen TOPMed |
|
|
rs763044513 CA998543 |
234 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA28768473 rs199745285 |
235 | F>S | No |
ClinGen 1000Genomes |
|
|
CA341591692 rs1164788937 |
236 | I>V | No |
ClinGen gnomAD |
|
|
CA998546 rs761817000 |
242 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341591744 rs1456987775 |
242 | T>P | No |
ClinGen gnomAD |
|
|
rs1280581677 CA341591767 |
244 | C>Y | No |
ClinGen gnomAD |
|
|
rs1040873870 CA28768489 |
249 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA998548 COSM674414 COSM1145883 rs561508073 |
250 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs765959966 CA28768497 |
253 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998550 rs765959966 |
253 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760315282 CA998549 |
253 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28768503 rs966893561 |
254 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA998552 rs754540651 |
255 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3782337 COSM3782338 rs778201905 CA998553 |
255 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA28768505 rs754540651 |
255 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998554 rs376748217 |
256 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA998556 rs148562013 |
257 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341591917 COSM3801222 rs1404368604 COSM3801223 |
259 | E>D | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 259 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28768521 rs974680413 COSM1294704 COSM1294705 |
259 | E>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs952397005 CA341591920 |
260 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA28768523 rs952397005 |
260 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 260 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341591934 rs1290544499 |
261 | L>P | No |
ClinGen gnomAD |
|
|
CA998557 COSM201086 rs200797895 |
262 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM347577 COSM1255268 CA998558 rs370020605 |
262 | R>H | lung oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM527464 CA341591940 rs370020605 COSM1138483 |
262 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749540892 CA998560 |
263 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998561 rs139417687 |
264 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486356555 CA341591964 |
265 | N>S | No |
ClinGen gnomAD |
|
|
CA998562 rs774629438 |
266 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1035193337 CA28768536 |
267 | T>N | No |
ClinGen Ensembl |
|
|
rs771974049 CA998564 |
267 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs773326405 CA998565 |
268 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 268 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA998568 rs753217230 |
269 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs144762287 CA998567 |
269 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs759078426 CA998569 |
270 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA341592021 rs1333183605 |
271 | F>S | No |
ClinGen TOPMed |
|
|
rs764851791 CA341592027 |
272 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1196875024 CA341592029 |
272 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA998570 rs764851791 |
272 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM893642 CA998572 rs757657925 |
273 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs752369153 COSM893641 CA998571 |
273 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750949690 CA998574 |
275 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141973265 CA998576 |
278 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1328696596 CA341592080 |
278 | E>K | No |
ClinGen gnomAD |
|
|
CA998577 rs749396408 |
279 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1281431129 CA341592103 |
280 | I>T | No |
ClinGen gnomAD |
|
|
rs779053750 CA998579 |
282 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1195160550 CA341592147 |
285 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA28768565 rs34171476 |
285 | E>V | No |
ClinGen Ensembl |
|
|
rs55807673 CA998582 |
287 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs55807673 CA341592168 |
287 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1219674326 CA341592175 |
288 | C>R | No |
ClinGen gnomAD |
|
|
CA341592214 rs1419487067 |
291 | W>C | No |
ClinGen TOPMed |
|
|
rs924526918 CA28768575 |
293 | T>R | No |
ClinGen Ensembl |
|
|
CA341592236 rs1428813592 |
294 | L>M | No |
ClinGen gnomAD |
|
|
rs1428813592 CA341592237 |
294 | L>V | No |
ClinGen gnomAD |
|
|
rs771056275 CA998584 |
299 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3740531 CA341592279 COSM3740530 rs1474610018 |
299 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA998587 rs764772843 |
300 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs759013250 CA998586 |
300 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28768589 rs999658273 |
301 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1297911789 CA341592331 |
304 | P>L | No |
ClinGen gnomAD |
|
|
rs750720992 CA998591 |
305 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1332565 rs200576153 COSM1332564 CA998592 |
306 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs557039649 CA998595 |
308 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 308 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA998597 rs148187770 |
310 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341592435 rs1188373696 |
315 | N>T | No |
ClinGen gnomAD |
|
|
rs1349937823 CA341592448 |
316 | I>T | No |
ClinGen TOPMed |
|
|
rs1386246731 CA341592444 |
316 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 318 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_034051 CA28768606 rs35167146 |
318 | D>Y | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA341592540 rs1329948887 |
325 | F>L | No |
ClinGen gnomAD |
|
|
rs752808701 CA28768611 |
325 | F>L | No |
ClinGen Ensembl |
|
|
rs1313611237 CA341592549 |
326 | Y>C | No |
ClinGen TOPMed |
|
|
rs1383137127 CA341592544 |
326 | Y>H | No |
ClinGen gnomAD |
|
|
rs147322977 COSM145534 CA998605 |
333 | G>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1417916529 CA341592618 |
336 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1462805062 CA341592624 |
337 | K>R | No |
ClinGen gnomAD |
|
|
rs763803707 CA998607 |
338 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1240625475 CA341592635 |
339 | A>S | No |
ClinGen gnomAD |
|
|
rs201121916 CA998609 |
340 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341592641 rs1205359417 |
340 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA998611 rs754336389 |
341 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765248480 CA998613 |
342 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256010333 CA341592660 |
343 | L>P | No |
ClinGen gnomAD |
|
|
rs1285333168 CA341592661 |
344 | G>S | No |
ClinGen TOPMed |
|
|
rs1161419340 CA341592668 |
345 | F>L | No |
ClinGen gnomAD |
|
|
rs1456965352 CA341592682 |
347 | R>C | No |
ClinGen gnomAD |
|
|
rs373625892 CA998616 |
347 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 348 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1383051884 CA341592687 |
348 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA28768634 rs991012500 |
350 | R>C | No |
ClinGen Ensembl |
|
|
CA341592701 rs1390543443 |
350 | R>H | No |
ClinGen TOPMed |
|
|
rs1022347670 CA28768636 |
351 | F>L | No |
ClinGen Ensembl |
|
|
CA341592709 rs1374026643 |
352 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1639427 CA998619 COSM1639426 rs780991501 |
353 | R>H | Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs978078091 CA28768644 |
356 | R>C | No |
ClinGen gnomAD |
|
|
rs1264572875 CA341592738 |
357 | I>V | No |
ClinGen gnomAD |
|
|
rs923931759 CA28768648 |
361 | T>P | No |
ClinGen TOPMed |
|
|
rs1202224349 CA341592931 |
362 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1202224349 CA341592933 |
362 | R>G | No |
ClinGen gnomAD |
|
|
CA998622 COSM1332567 COSM1332566 rs779963498 |
362 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs768132680 CA341592982 |
365 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA998624 rs768132680 |
365 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1193440653 CA341593019 |
368 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs932458338 CA28768659 |
369 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771226795 CA998627 |
374 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 376 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296313673 CA341593150 |
377 | S>N | No |
ClinGen gnomAD |
|
|
CA341593170 rs1571039562 |
378 | T>I | No |
ClinGen Ensembl |
|
|
CA28768667 rs941117092 |
379 | N>H | No |
ClinGen Ensembl |
|
|
rs765828127 CA998630 |
379 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM893644 COSM1583250 rs1404976119 CA341593242 |
384 | L>F | Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1464746348 CA341593259 |
385 | I>T | No |
ClinGen TOPMed |
|
|
CA28768678 rs200363121 |
394 | I>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA341593483 rs1207247169 |
401 | Y>H | No |
ClinGen gnomAD |
|
|
CA341593529 rs1283727891 |
404 | R>C | No |
ClinGen TOPMed |
|
|
CA341593536 rs1470735507 |
404 | R>L | No |
ClinGen gnomAD |
|
|
rs750297898 CA998638 |
405 | I>T | No |
ClinGen ExAC |
|
|
rs1334653320 CA341593542 |
405 | I>V | No |
ClinGen gnomAD |
|
|
rs1479612554 CA341593562 |
406 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 406 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341593579 rs1190770723 |
408 | R>G | No |
ClinGen gnomAD |
|
|
CA28768679 rs779859089 |
409 | P>A | No |
ClinGen TOPMed |
|
|
CA341593593 rs779859089 |
409 | P>S | No |
ClinGen TOPMed |
|
|
rs199799219 CA28768681 |
411 | D>N | No |
ClinGen TOPMed |
|
|
rs1430042440 CA341593627 |
412 | P>R | No |
ClinGen gnomAD |
|
|
CA998642 rs768187654 |
413 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA998641 rs375468070 |
413 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747773866 CA998644 |
417 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747773866 CA341593676 |
417 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772738428 CA998646 |
419 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA998647 rs759991813 |
420 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA998648 rs770250581 |
422 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1168035396 CA341593742 |
422 | N>S | No |
ClinGen TOPMed |
|
|
rs1216741299 CA341593748 |
423 | I>V | No |
ClinGen gnomAD |
|
|
rs1227890951 CA341593770 |
425 | I>V | No |
ClinGen gnomAD |
|
|
CA341593822 rs1571039919 |
429 | W>G | No |
ClinGen Ensembl |
|
|
rs1286496413 CA341593846 |
431 | V>L | No |
ClinGen gnomAD |
|
|
rs1242870316 CA341593897 |
435 | T>R | No |
ClinGen gnomAD |
|
|
CA341593945 rs1445225708 |
440 | G>R | No |
ClinGen gnomAD |
|
|
rs1310809544 CA341593971 |
442 | M>T | No |
ClinGen gnomAD |
|
|
CA998655 rs549855010 |
443 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1557858550 CA341594018 |
446 | T>A | No |
ClinGen Ensembl |
|
|
CA341594025 rs1159169929 |
446 | T>M | No |
ClinGen gnomAD |
|
|
CA998657 rs145221541 |
447 | W>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs753798744 CA998658 |
449 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1364853466 CA341594145 |
458 | L>P | No |
ClinGen gnomAD |
|
|
rs1289833682 CA341594140 |
458 | L>V | No |
ClinGen TOPMed |
|
|
rs1000017547 CA28768710 |
460 | G>D | No |
ClinGen TOPMed |
|
|
CA998661 rs747764524 |
461 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 461 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341594168 rs1180881395 |
461 | V>M | No |
ClinGen gnomAD |
|
|
rs1344430397 CA341594192 |
464 | I>V | No |
ClinGen TOPMed |
|
|
CA28768713 rs966007199 |
465 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA998663 rs777518449 |
467 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs746598938 CA998664 |
471 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770301734 CA998665 |
472 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA28768720 rs200055497 |
474 | N>S | No |
ClinGen Ensembl |
|
|
CA998667 rs367870522 |
476 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769351147 CA998668 |
477 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28768723 rs953966957 |
477 | M>V | No |
ClinGen Ensembl |
|
|
CA28768728 rs191317326 |
481 | L>Q | No |
ClinGen 1000Genomes |
|
|
rs985277923 CA28768731 |
483 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1409514555 CA341594375 |
487 | K>Q | No |
ClinGen gnomAD |
|
|
rs1029005555 CA28768734 |
488 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341594430 rs143546722 |
492 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140378578 COSM458738 COSM1134396 CA998672 |
492 | R>Q | cervix [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs143546722 CA998671 |
492 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1183542518 CA341594436 |
493 | K>Q | No |
ClinGen TOPMed |
|
|
CA998675 rs150979037 |
495 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA998677 rs765279902 |
496 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA341594484 rs754766832 |
496 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM893646 rs754766832 CA998676 COSM1583247 |
496 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA341594495 rs1267697877 |
497 | P>Q | No |
ClinGen gnomAD |
|
|
rs201533610 CA998678 |
497 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372024993 CA998680 |
498 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376704379 CA998681 |
498 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA998679 rs372024993 |
498 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA998682 rs367634024 |
499 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA998684 rs749727219 |
500 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341594539 rs1468124833 |
502 | L>V | No |
ClinGen gnomAD |
|
|
rs1181043145 CA341594548 |
503 | E>Q | No |
ClinGen gnomAD |
|
|
rs774962835 CA998686 |
506 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA341594585 rs372407799 |
506 | M>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA28768773 rs372407799 |
506 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA341594595 rs1448258015 |
507 | Y>S | No |
ClinGen TOPMed |
|
|
CA28768777 rs937131166 |
508 | C>R | No |
ClinGen TOPMed |
|
|
CA998689 rs768599105 |
508 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998688 rs768599105 |
508 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347482220 CA341594670 |
513 | T>A | No |
ClinGen gnomAD |
|
|
CA341594689 rs1356384795 |
514 | S>F | No |
ClinGen gnomAD |
|
|
CA341594682 rs759363747 |
514 | S>P | No |
ClinGen ExAC |
|
|
rs759363747 CA998694 |
514 | S>T | No |
ClinGen ExAC |
|
| rs766560714 | 516 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs59123361 CA998698 VAR_062185 |
516 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs183575959 COSM3930256 CA998697 COSM3930255 |
516 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs943730852 CA28768792 |
517 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1571040634 CA341594724 |
518 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 518 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28768797 rs543761843 |
518 | S>R | No |
ClinGen Ensembl |
|
|
CA998699 rs769233932 |
519 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12411176 COSM4142121 COSM4142122 CA998700 VAR_027505 |
520 | C>Y | thyroid [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs369670720 CA28768800 |
521 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA998701 rs148139999 |
524 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM462566 CA341594779 rs1268969533 |
525 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA341594776 rs1203867325 |
525 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1203867325 CA341594774 |
525 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA998704 rs150643950 |
526 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA998703 rs574096948 |
526 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574096948 CA341594780 |
526 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1169019795 CA341594788 |
527 | A>G | No |
ClinGen gnomAD |
|
|
rs1477881766 CA341594784 |
527 | A>S | No |
ClinGen gnomAD |
|
|
rs143611044 CA998706 |
528 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748703547 CA998705 |
528 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs778341122 CA998707 |
530 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA341594808 rs1198904212 |
531 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA998708 rs747154105 |
531 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 532 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28768814 rs1006713654 |
532 | M>L | No |
ClinGen TOPMed |
|
|
rs776865803 CA998710 |
534 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769642146 CA998712 |
535 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA341594843 rs1416131575 |
536 | K>E | No |
ClinGen TOPMed |
|
|
CA998715 rs201507570 |
537 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139444791 CA998714 |
537 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA998716 rs373322407 |
538 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341594879 rs1304536915 |
540 | S>F | No |
ClinGen gnomAD |
|
|
CA998758 rs149951194 |
541 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA28769135 rs200102570 |
542 | Q>R | No |
ClinGen Ensembl |
|
|
CA341594905 rs1300981590 |
544 | G>C | No |
ClinGen gnomAD |
|
|
CA341594911 rs1571044787 |
545 | D>N | No |
ClinGen Ensembl |
|
|
rs373438977 CA998761 |
546 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341594920 rs373438977 |
546 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341594927 rs1474133778 |
547 | N>I | No |
ClinGen TOPMed |
|
|
rs149082882 CA998763 |
548 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341594945 rs1223529094 |
549 | V>G | No |
ClinGen gnomAD |
|
|
CA341594978 rs1321561713 |
553 | E>K | No |
ClinGen TOPMed |
|
|
rs780133268 CA998764 |
554 | E>K | No |
ClinGen ExAC |
|
|
CA341595016 rs1487612297 |
556 | A>T | No |
ClinGen gnomAD |
|
|
rs371019224 CA998765 |
557 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341595044 rs1433384129 |
558 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA28769142 rs945183018 |
560 | Q>H | No |
ClinGen Ensembl |
|
|
rs1166560727 CA341595071 |
561 | P>S | No |
ClinGen gnomAD |
|
|
rs375796717 CA998769 |
563 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1424685934 CA341595092 |
563 | A>T | No |
ClinGen gnomAD |
|
|
CA341595103 rs1277605324 |
564 | S>A | No |
ClinGen TOPMed |
|
|
rs1435301375 CA341595119 |
565 | S>F | No |
ClinGen gnomAD |
|
|
CA998770 rs771973719 |
565 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1435301375 CA341595115 |
565 | S>Y | No |
ClinGen gnomAD |
|
|
CA998771 rs773067084 |
566 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147798518 CA998774 |
567 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147798518 CA341595136 |
567 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1571045127 CA341595131 |
567 | T>P | No |
ClinGen Ensembl |
|
|
CA341595137 rs147798518 |
567 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341595140 rs1295983020 |
568 | P>A | No |
ClinGen gnomAD |
|
|
CA341595141 rs1295983020 |
568 | P>S | No |
ClinGen gnomAD |
|
|
CA998776 COSM3975867 rs142302926 COSM3975866 |
569 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 570 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775101038 CA998777 |
571 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341595182 rs898810500 |
571 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA28769147 rs898810500 |
571 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1261102442 CA341595189 |
572 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs137885705 CA998778 |
572 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA998779 rs200087078 |
573 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM462567 rs1190326099 CA341595193 |
573 | A>T | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs750916005 CA998780 |
575 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA341595211 rs750916005 |
575 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA341595217 rs761187683 |
575 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA998781 rs761187683 |
575 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998783 rs754018819 |
576 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA998784 COSM893648 rs150481020 COSM1583246 |
576 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs57855778 CA998785 |
577 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341595242 rs1159291565 |
578 | T>I | No |
ClinGen gnomAD |
|
|
CA998787 rs757615011 |
579 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs767282952 CA998789 |
580 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA341595260 rs770965544 |
580 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770965544 CA998790 COSM462568 |
580 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs548644103 CA28769152 |
581 | D>G | No |
ClinGen 1000Genomes |
|
|
rs780976462 CA998791 |
582 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA28769154 rs1033122106 |
582 | R>K | No |
ClinGen Ensembl |
|
|
rs745430301 CA998792 |
583 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA341595302 rs1366578064 |
584 | K>E | No |
ClinGen gnomAD |
|
|
CA28769155 rs957586508 |
584 | K>N | No |
ClinGen Ensembl |
|
|
CA341595335 rs1227988560 |
586 | A>G | No |
ClinGen gnomAD |
|
|
CA341595342 rs1159944483 |
587 | A>V | No |
ClinGen gnomAD |
|
|
rs752419978 CA28769156 |
589 | C>G | No |
ClinGen Ensembl |
|
|
CA998796 rs762543109 |
590 | F>L | No |
ClinGen ExAC |
|
|
rs772336869 CA998797 |
594 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA998798 rs773560393 |
596 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 596 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374706301 CA998800 |
597 | Y>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs760944501 CA998799 |
597 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA341595416 rs1252262551 |
598 | A>S | No |
ClinGen TOPMed |
|
|
CA341595434 rs139597550 |
599 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777571978 CA998803 |
600 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758622508 CA998805 |
601 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758622508 CA341595451 |
601 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs566567590 CA998808 |
605 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA998807 rs200184574 |
605 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA28769162 rs943242157 |
606 | K>Q | No |
ClinGen Ensembl |
|
|
rs1447449289 CA341595519 |
607 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs147820096 CA28736800 |
608 | T>R | No |
ClinGen ESP |
|
|
CA28736801 rs753318385 |
609 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998861 rs367744177 |
610 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770250567 CA998862 |
612 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998864 rs749707254 |
612 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA998863 rs770250567 |
612 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28736850 rs975469338 |
613 | D>N | No |
ClinGen TOPMed |
|
|
rs920010685 CA28736868 |
615 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1185486487 CA341564177 |
615 | P>L | No |
ClinGen gnomAD |
|
|
rs1349353484 CA341564197 |
617 | Q>R | No |
ClinGen gnomAD |
|
|
rs999036985 CA28736874 |
618 | H>P | No |
ClinGen Ensembl |
|
|
rs747746589 CA998866 |
618 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1161172452 CA341564220 |
619 | S>L | No |
ClinGen gnomAD |
|
|
rs761948155 CA998867 COSM893650 |
620 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA998868 rs772338469 |
621 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536127949 CA998869 |
622 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1393842700 CA341564263 |
624 | C>Y | No |
ClinGen gnomAD |
|
|
CA341564276 rs766124199 |
625 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA998871 rs766124199 |
625 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1350791809 CA341564296 |
628 | A>V | No |
ClinGen gnomAD |
|
|
rs1229789326 CA341564297 |
629 | G>R | No |
ClinGen gnomAD |
|
|
CA998872 rs753839872 |
629 | G>V | No |
ClinGen ExAC |
|
|
CA341564318 rs1290605274 |
631 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs983180763 CA28736955 |
632 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs983180763 CA341564323 |
632 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341564325 rs1238990914 |
632 | F>S | No |
ClinGen gnomAD |
|
|
rs377680993 CA998873 |
633 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q03721
4 regional properties for Q03721
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| dendrite membrane | The portion of the plasma membrane surrounding a dendrite. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| neuronal cell body membrane | The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites. |
| 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. |
| voltage-gated potassium channel complex | A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| delayed rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by a delayed rectifying voltage-gated channel. A delayed rectifying current-voltage relation is one where channel activation kinetics are time-dependent, and inactivation is slow. |
| potassium channel activity | Enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| voltage-gated potassium channel activity | Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
5 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. |
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| potassium ion transport | The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q4ZHA6 | KCNB2 | Potassium voltage-gated channel subfamily B member 2 | Bos taurus (Bovine) | PR |
| P17972 | Shaw | Potassium voltage-gated channel protein Shaw | Drosophila melanogaster (Fruit fly) | PR |
| P22459 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Homo sapiens (Human) | PR |
| P22001 | KCNA3 | Potassium voltage-gated channel subfamily A member 3 | Homo sapiens (Human) | PR |
| Q16322 | KCNA10 | Potassium voltage-gated channel subfamily A member 10 | Homo sapiens (Human) | PR |
| P16389 | KCNA2 | Potassium voltage-gated channel subfamily A member 2 | Homo sapiens (Human) | PR |
| Q96RP8 | KCNA7 | Potassium voltage-gated channel subfamily A member 7 | Homo sapiens (Human) | PR |
| Q09470 | KCNA1 | Potassium voltage-gated channel subfamily A member 1 | Homo sapiens (Human) | PR |
| Q9UK17 | KCND3 | Potassium voltage-gated channel subfamily D member 3 | Homo sapiens (Human) | PR |
| Q9ULS6 | KCNS2 | Potassium voltage-gated channel subfamily S member 2 | Homo sapiens (Human) | PR |
| Q14721 | KCNB1 | Potassium voltage-gated channel subfamily B member 1 | Homo sapiens (Human) | PR |
| Q8TDN2 | KCNV2 | Potassium voltage-gated channel subfamily V member 2 | Homo sapiens (Human) | PR |
| Q9H3M0 | KCNF1 | Potassium voltage-gated channel subfamily F member 1 | Homo sapiens (Human) | PR |
| Q92953 | KCNB2 | Potassium voltage-gated channel subfamily B member 2 | Homo sapiens (Human) | PR |
| Q80XM3 | Kcng4 | Potassium voltage-gated channel subfamily G member 4 | Mus musculus (Mouse) | PR |
| Q03717 | Kcnb1 | Potassium voltage-gated channel subfamily B member 1 | Mus musculus (Mouse) | PR |
| O35174 | Kcns2 | Potassium voltage-gated channel subfamily S member 2 | Mus musculus (Mouse) | PR |
| A6H8H5 | Kcnb2 | Potassium voltage-gated channel subfamily B member 2 | Mus musculus (Mouse) | PR |
| Q7TSH7 | Kcnf1 | Potassium voltage-gated channel subfamily F member 1 | Mus musculus (Mouse) | PR |
| O18868 | KCNB1 | Potassium voltage-gated channel subfamily B member 1 | Sus scrofa (Pig) | PR |
| Q9ER26 | Kcns2 | Potassium voltage-gated channel subfamily S member 2 | Rattus norvegicus (Rat) | PR |
| P15387 | Kcnb1 | Potassium voltage-gated channel subfamily B member 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MISSVCVSSY | RGRKSGNKPP | SKTCLKEEMA | KGEASEKIII | NVGGTRHETY | RSTLRTLPGT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RLAWLADPDG | GGRPETDGGG | VGSSGSSGGG | GCEFFFDRHP | GVFAYVLNYY | RTGKLHCPAD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VCGPLFEEEL | TFWGIDETDV | EPCCWMTYRQ | HRDAEEALDI | FESPDGGGSG | AGPSDEAGDD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ERELALQRLG | PHEGGAGHGA | GSGGCRGWQP | RMWALFEDPY | SSRAARVVAF | ASLFFILVSI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TTFCLETHEA | FNIDRNVTEI | LRVGNITSVH | FRREVETEPI | LTYIEGVCVL | WFTLEFLVRI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VCCPDTLDFV | KNLLNIIDFV | AILPFYLEVG | LSGLSSKAAR | DVLGFLRVVR | FVRILRIFKL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TRHFVGLRVL | GHTLRASTNE | FLLLIIFLAL | GVLIFATMIY | YAERIGARPS | DPRGNDHTDF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KNIPIGFWWA | VVTMTTLGYG | DMYPKTWSGM | LVGALCALAG | VLTIAMPVPV | IVNNFGMYYS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LAMAKQKLPK | KRKKHVPRPA | QLESPMYCKS | EETSPRDSTC | SDTSPPAREE | GMIERKRADS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KQNGDANAVL | SDEEGAGLTQ | PLASSPTPEE | RRALRRSTTR | DRNKKAAACF | LLSTGDYACA |
| 610 | 620 | 630 | |||
| DGSVRKGTFV | LRDLPLQHSP | EAACPPTAGT | LFLPH |