Q7L7V1
PR
Gene name |
DHX32 (DDX32) |
Protein name |
Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 |
Names |
DEAD/H box 32, DEAD/H helicase-like protein 1, DHLP1, DEAH box protein 32, HuDDX32 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55760 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
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 Q7L7V1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7L7V1-F1 | Predicted | AlphaFoldDB |
532 variants for Q7L7V1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs745686678 CA5739544 |
5 | G>A | No |
ClinGen ExAC |
|
|
rs1196354479 CA378669949 |
6 | L>P | No |
ClinGen TOPMed |
|
|
CA5739541 rs567672999 |
6 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378669928 rs746617110 |
7 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777313399 CA5739539 |
10 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 10 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378669872 rs1317108325 |
11 | S>F | No |
ClinGen gnomAD |
|
|
rs754210938 CA5739538 |
12 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739535 rs150040675 |
16 | R>C | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs765764818 CA5739534 |
16 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA378669762 rs1232595461 |
17 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs143353901 CA5739532 |
22 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378669639 rs1457988623 |
23 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5739531 rs761025080 |
25 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5739529 rs773532934 |
26 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039233701 CA215305694 |
27 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374870742 CA215305688 |
28 | D>V | No |
ClinGen Ensembl |
|
|
CA378669434 rs1444375929 |
29 | E>K | No |
ClinGen gnomAD |
|
|
CA378669189 rs1180740558 |
35 | C>F | No |
ClinGen gnomAD |
|
|
rs1180740558 CA378669192 |
35 | C>S | No |
ClinGen gnomAD |
|
|
rs139351747 CA5739527 |
36 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378669116 rs552754249 |
38 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5739526 rs552754249 |
38 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1210461943 CA378669083 |
39 | E>* | No |
ClinGen gnomAD |
|
|
CA5739525 rs769773846 |
41 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271686713 CA378668933 |
45 | G>R | No |
ClinGen gnomAD |
|
|
rs868643688 CA215305672 |
47 | P>S | No |
ClinGen Ensembl |
|
|
CA5739523 rs776434435 |
49 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs369691673 CA5739522 |
51 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5739521 rs746704907 |
51 | R>H | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 51 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777399632 CA5739520 |
52 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA5739517 rs764568173 |
53 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739518 rs747711569 |
53 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739519 rs527861445 |
53 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 55 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5739513 rs61757588 |
56 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1424659828 CA378668619 |
57 | K>E | No |
ClinGen gnomAD |
|
|
CA378668518 rs1182501384 |
61 | D>G | No |
ClinGen TOPMed |
|
|
CA378668528 rs1160769498 |
61 | D>N | No |
ClinGen gnomAD |
|
|
CA378668502 rs1452117508 |
62 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1363402059 CA378668490 |
63 | P>L | No |
ClinGen gnomAD |
|
|
CA378668488 rs1441488672 |
64 | I>V | No |
ClinGen TOPMed |
|
|
CA378668442 rs1156703743 |
66 | K>N | No |
ClinGen TOPMed |
|
|
CA378668431 rs1434964585 |
67 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378668393 rs1266944446 |
69 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1198790333 CA378668388 |
69 | Y>S | No |
ClinGen gnomAD |
|
|
rs1490148397 CA378668372 |
70 | S>P | No |
ClinGen gnomAD |
|
|
CA215305592 rs549052623 |
72 | M>I | No |
ClinGen gnomAD |
|
|
rs761872798 CA5739510 |
72 | M>L | No |
ClinGen ExAC |
|
|
CA378668333 rs761872798 |
72 | M>V | No |
ClinGen ExAC |
|
|
rs1348323802 CA378668274 |
74 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA215305563 rs760707814 |
78 | N>S | No |
ClinGen gnomAD |
|
|
rs764032075 CA5739508 |
79 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA215305547 rs915185942 |
80 | I>L | No |
ClinGen TOPMed |
|
|
rs143250708 CA378668131 |
81 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5739507 rs143250708 |
81 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1589718128 CA378668099 |
82 | I>T | No |
ClinGen Ensembl |
|
|
rs1336194048 CA378668110 |
82 | I>V | No |
ClinGen TOPMed |
|
|
rs1554897798 CA378668037 |
85 | G>E | No |
ClinGen Ensembl |
|
|
CA5739506 rs776521553 |
86 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378667980 rs1341632155 |
87 | A>G | No |
ClinGen gnomAD |
|
|
CA5739505 rs770780700 |
88 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378667972 rs770780700 |
88 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79604945 CA5739504 |
90 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772936868 CA5739503 |
91 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5739501 rs201349585 |
93 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778530984 CA5739499 |
94 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA5739481 rs773868637 |
95 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5739480 rs768268384 |
98 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA5739478 rs775072040 |
101 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1589714592 CA378680398 |
105 | S>P | No |
ClinGen Ensembl |
|
|
rs1342758962 CA378680377 |
107 | H>Y | No |
ClinGen TOPMed |
|
|
CA378680343 rs1207078811 |
109 | Q>H | No |
ClinGen TOPMed |
|
|
CA5739476 COSM23526 rs746327751 |
111 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA215356837 rs757531922 |
112 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757531922 CA5739474 |
112 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739475 rs74846600 |
112 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757531922 CA378680315 |
112 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371721938 CA5739472 |
113 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378680232 rs1395640237 |
120 | K>* | No |
ClinGen gnomAD |
|
|
CA378680209 rs1297229403 |
122 | T>P | No |
ClinGen gnomAD |
|
|
rs1164181189 CA378680164 |
126 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA378680154 rs752780900 |
127 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752780900 COSM1346645 CA5739470 |
127 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5739468 rs190960315 |
129 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5739469 rs765264694 |
129 | R>W | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378680109 rs1589714554 |
130 | V>G | No |
ClinGen Ensembl |
|
|
rs150128200 CA5739465 |
130 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378680096 rs1436761900 |
131 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1589714548 CA378680089 |
132 | D>G | No |
ClinGen Ensembl |
|
|
rs1365918792 CA378680076 |
133 | E>V | No |
ClinGen TOPMed |
|
|
CA378680057 rs1225440150 |
135 | D>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 139 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5739462 rs774570599 |
140 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331804475 CA378679850 |
145 | V>A | No |
ClinGen gnomAD |
|
|
CA5739459 rs141167178 |
145 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777000857 CA5739457 |
147 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA378679812 rs1363648826 |
148 | F>S | No |
ClinGen gnomAD |
|
|
rs938384943 CA215356724 |
149 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs771386808 CA5739456 |
154 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5739453 rs758652773 |
155 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739454 rs763236380 |
155 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA378679679 rs1428238386 |
158 | L>P | No |
ClinGen TOPMed |
|
|
CA215353079 rs139438614 |
161 | C>R | No |
ClinGen ESP TOPMed |
|
|
CA378679305 rs1363994456 |
161 | C>Y | No |
ClinGen gnomAD |
|
|
CA215353075 rs539621982 |
168 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 172 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748432189 CA5739427 |
173 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378679145 rs1267962637 |
175 | F>V | No |
ClinGen TOPMed |
|
|
rs1366115863 CA378679135 |
176 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA378679107 rs1171731451 |
178 | S>R | No |
ClinGen gnomAD |
|
|
rs779739096 CA215353053 |
179 | Y>C | No |
ClinGen gnomAD |
|
|
CA378679097 rs779739096 |
179 | Y>F | No |
ClinGen gnomAD |
|
|
CA378679089 rs1186249125 |
180 | G>W | No |
ClinGen gnomAD |
|
|
rs1443542378 CA378679065 |
182 | I>M | No |
ClinGen gnomAD |
|
|
CA5739425 rs768805850 |
183 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs544152901 CA5739424 |
184 | L>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA378679037 rs1350304126 |
185 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 186 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378679030 rs1460528354 |
186 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 187 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378678972 rs1309133767 |
190 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757162489 CA5739421 |
192 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA215353001 rs538154946 |
193 | A>T | No |
ClinGen Ensembl |
|
|
rs1383321741 CA378678934 |
193 | A>V | No |
ClinGen gnomAD |
|
|
CA378678918 rs1316706796 |
194 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5739419 rs368470851 |
195 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5739420 rs368470851 |
195 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1188087 CA5739418 rs758265066 |
199 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 200 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5739416 rs764997983 |
201 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs752456171 CA5739417 |
201 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5739414 rs753323340 |
202 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1564828154 CA378678830 |
203 | D>N | No |
ClinGen Ensembl |
|
|
rs765866900 CA5739412 |
204 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA5739411 rs761139243 |
206 | L>I | No |
ClinGen ExAC |
|
|
CA215352962 rs893159207 |
207 | A>G | No |
ClinGen TOPMed |
|
| VAR_035843 | 209 | P>R | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA378678740 rs773742344 |
211 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251542609 CA378678714 |
214 | I>V | No |
ClinGen gnomAD |
|
|
CA378678677 rs1479722406 |
217 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA215352926 rs147041404 |
218 | S>L | No |
ClinGen 1000Genomes |
|
|
rs1204424283 CA378678655 |
219 | P>S | No |
ClinGen gnomAD |
|
|
rs1359885497 CA378678632 |
221 | L>P | No |
ClinGen gnomAD |
|
|
rs1293593474 CA378678621 |
222 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774628858 CA5739407 |
223 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA378678604 rs1465176198 |
224 | K>E | No |
ClinGen TOPMed |
|
|
CA5739404 rs375145354 |
226 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1370610503 | 229 | Y>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372253510 CA5739403 |
231 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758355148 CA5739400 |
232 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368692405 CA5739401 |
232 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378678507 rs1424461821 |
233 | P>A | No |
ClinGen gnomAD |
|
|
CA5739398 rs748210084 |
235 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739397 rs141506421 |
239 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378678412 rs1249993959 |
241 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753510109 CA5739396 |
242 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA378678377 rs1270995419 |
245 | V>A | No |
ClinGen gnomAD |
|
|
CA5739395 rs373742535 |
245 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs941091175 CA215352877 |
246 | V>A | No |
ClinGen TOPMed |
|
|
CA378678357 rs976779141 |
247 | Y>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 247 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760214823 CA5739394 |
248 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA215352865 rs916289244 |
249 | S>R | No |
ClinGen TOPMed |
|
|
CA378678329 rs1355437209 |
250 | E>A | No |
ClinGen gnomAD |
|
|
CA5739393 rs749874940 |
250 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739392 rs143951588 |
251 | A>V | Variant assessed as Somatic; 0.0001849 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1287095245 CA378678281 |
254 | D>E | No |
ClinGen gnomAD |
|
|
rs1314767298 CA378678290 |
254 | D>N | No |
ClinGen gnomAD |
|
|
rs1210300806 CA378678274 |
255 | S>Y | No |
ClinGen TOPMed |
|
|
rs1018794020 CA215352858 |
256 | F>L | No |
ClinGen Ensembl |
|
|
CA5739391 rs762264994 |
256 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739390 rs774718823 |
258 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs985619832 CA215352847 |
259 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs149495763 CA5739389 COSM1346642 |
261 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5739388 rs370273918 COSM293535 |
261 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5739387 rs775776642 |
262 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1290853913 CA378678204 |
262 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745974346 CA5739385 |
263 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 265 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5739384 rs776786577 |
268 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1481480589 CA378678136 |
268 | H>Q | No |
ClinGen gnomAD |
|
|
rs201005566 CA5739383 |
269 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5739381 rs778903589 |
270 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA215352778 VAR_052181 rs11244674 |
271 | E>D | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs112243365 CA215352791 |
271 | E>G | No |
ClinGen Ensembl |
|
|
CA378678093 rs1445329703 |
273 | G>R | No |
ClinGen gnomAD |
|
|
CA378678065 rs1206686012 |
275 | I>T | No |
ClinGen gnomAD |
|
|
rs748964197 CA5739379 |
276 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1303057506 CA378678052 |
277 | V>I | No |
ClinGen TOPMed |
|
|
rs1002509849 CA215352729 |
283 | Q>* | No |
ClinGen TOPMed |
|
|
CA215347911 rs370623553 COSM684111 |
286 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs1340621117 CA378677215 |
289 | C>Y | No |
ClinGen gnomAD |
|
|
CA5739357 rs34050865 |
290 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5739358 rs34050865 |
290 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5739355 rs749109426 |
295 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1315984479 CA378677142 |
297 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs143289913 CA5739354 |
297 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378677123 rs1564826839 |
299 | N>K | No |
ClinGen Ensembl |
|
|
rs527346389 CA215347849 |
300 | P>R | No |
ClinGen Ensembl |
|
|
rs35772239 CA5739352 RCV000947299 VAR_052182 |
301 | D>A | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 302 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377656567 CA5739350 |
303 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5739347 rs764674968 |
311 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA215347819 rs1050195873 |
312 | P>Q | No |
ClinGen Ensembl |
|
|
rs1389399240 CA378677039 |
313 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs753137986 CA5739345 |
318 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs74640493 CA5739344 |
319 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA378676996 rs1437952565 |
319 | F>Y | No |
ClinGen gnomAD |
|
|
CA378676973 rs1194656322 |
322 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 323 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759888460 CA5739343 |
323 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312419767 CA378676962 |
324 | E>A | No |
ClinGen gnomAD |
|
|
rs964951476 CA215347790 |
327 | K>E | No |
ClinGen TOPMed |
|
|
rs766637302 CA5739341 |
327 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378676936 rs1283863822 |
328 | R>* | No |
ClinGen TOPMed gnomAD |
|
| rs757784865 | 328 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5739339 rs373997599 |
329 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
TCGA novel CA378676929 rs373997599 |
329 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
CA378676928 rs1329400559 |
329 | C>Y | No |
ClinGen TOPMed |
|
|
rs1356098155 CA378676920 |
330 | Q>P | No |
ClinGen TOPMed |
|
|
CA5739338 rs773095402 |
335 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1288956675 CA378676883 |
335 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5739336 rs762747306 |
336 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA378676880 rs1369890652 |
336 | V>M | No |
ClinGen gnomAD |
|
|
CA378676855 rs1589710311 |
340 | T>A | No |
ClinGen Ensembl |
|
|
rs1426279678 CA378676841 |
342 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 344 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5739335 rs371170658 |
345 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1224282845 CA378676794 |
348 | W>C | No |
ClinGen TOPMed |
|
|
CA378676791 rs1002339103 |
349 | S>C | No |
ClinGen TOPMed |
|
|
CA215347768 rs1002339103 |
349 | S>G | No |
ClinGen TOPMed |
|
|
CA5739334 rs769442634 |
349 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745585566 CA5739333 |
350 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs537558196 CA215347736 |
352 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA378676764 rs1433624184 |
353 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770513067 CA5739331 |
357 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739332 rs770513067 |
357 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA215347723 rs377442755 |
360 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA378676353 rs1357680665 |
361 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs573673829 CA5739272 |
368 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA215346405 rs911423180 |
368 | P>S | No |
ClinGen Ensembl |
|
|
CA378675844 rs1388806850 |
370 | I>M | No |
ClinGen TOPMed |
|
|
rs1179011208 CA378675837 |
371 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5739269 rs777280901 |
372 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA215346367 rs201263763 |
373 | N>S | No |
ClinGen gnomAD |
|
|
CA378675818 rs201263763 |
373 | N>T | No |
ClinGen gnomAD |
|
|
CA215346363 rs549243975 |
374 | S>A | No |
ClinGen gnomAD |
|
|
CA5739268 rs776137704 |
374 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367911803 CA378675795 |
376 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367911803 CA5739267 |
376 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5739265 rs543883941 |
379 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543883941 CA378675753 |
379 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378675718 rs1267197063 |
382 | Q>H | No |
ClinGen gnomAD |
|
|
rs961381093 CA215346279 |
388 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs61757586 CA215346270 |
388 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61757586 CA5739262 |
388 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961381093 CA378675659 |
388 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758457394 CA5739261 |
389 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA378675649 rs1228537363 |
389 | K>R | No |
ClinGen TOPMed |
|
|
CA5739260 rs753837269 |
390 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5739259 rs375726805 |
391 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5739258 rs371312612 |
391 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1409689175 CA378675623 |
393 | G>A | No |
ClinGen gnomAD |
|
|
CA215346226 rs981974319 |
394 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| rs766010296 | 397 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267004398 CA378675531 |
400 | F>S | No |
ClinGen gnomAD |
|
|
rs935348718 CA215346077 |
401 | F>L | No |
ClinGen Ensembl |
|
|
rs867840986 CA215346054 |
402 | C>F | No |
ClinGen Ensembl |
|
| TCGA novel | 402 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378675479 rs1564826255 |
405 | T>A | No |
ClinGen Ensembl |
|
|
CA378675421 rs1254728355 |
410 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5739237 rs780909472 |
411 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739236 rs757116532 |
413 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs902561350 CA215346026 |
413 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5739235 rs751334306 |
414 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs752286553 CA5739232 |
416 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5739233 rs762647404 |
416 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5739231 rs764772761 |
419 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA378675293 rs1170238860 |
421 | M>I | No |
ClinGen gnomAD |
|
|
CA378675296 rs760009209 |
421 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA5739230 rs760009209 |
421 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs566110537 CA5739229 |
422 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1262664392 CA378675280 |
422 | Q>P | No |
ClinGen Ensembl |
|
|
rs1246996311 CA378675261 |
424 | A>S | No |
ClinGen gnomAD |
|
|
rs1326411208 CA378675219 |
428 | S>N | No |
ClinGen TOPMed |
|
|
rs1299183032 CA378675205 |
429 | M>T | No |
ClinGen gnomAD |
|
|
rs17153669 CA5739228 VAR_052183 |
430 | V>L | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA378675197 rs17153669 |
430 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 431 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307137995 CA378675185 |
431 | L>I | No |
ClinGen gnomAD |
|
|
CA215345931 rs931534076 |
432 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 433 | M>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5739226 rs773503819 |
434 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA378675129 rs1277283025 |
436 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs748342353 CA5739224 |
436 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378675127 rs1277283025 |
436 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5739222 rs535736548 |
438 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5739223 rs778912686 |
438 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5739221 rs143704757 |
439 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5739220 rs143704757 |
439 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333589680 CA378675089 |
440 | G>S | No |
ClinGen gnomAD |
|
|
CA378675049 rs993927188 |
443 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5739218 rs746822709 |
443 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564826175 CA596589832 |
444 | C>* | No |
ClinGen Ensembl |
|
|
rs1468029868 CA378675043 |
444 | C>Y | No |
ClinGen TOPMed |
|
|
CA378675025 rs1421365967 |
445 | D>V | No |
ClinGen gnomAD |
|
|
rs61757587 CA5739217 |
448 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1331251848 CA378674468 |
455 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5739193 rs758252946 |
458 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA378674411 rs1564822970 |
460 | E>Q | No |
ClinGen Ensembl |
|
|
CA215336413 rs946594750 |
461 | D>N | No |
ClinGen Ensembl |
|
|
CA378674364 rs1253713762 |
463 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs934676983 CA215336381 |
463 | D>G | No |
ClinGen Ensembl |
|
|
CA215336393 rs1052814050 |
463 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 467 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA215336367 rs1017977519 |
468 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA378674306 rs1418842015 |
469 | D>E | No |
ClinGen TOPMed |
|
|
CA378674291 rs1564822951 |
470 | N>K | No |
ClinGen Ensembl |
|
|
CA5739188 rs765831395 |
472 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs756666817 CA5739187 |
473 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs750921125 CA5739186 |
474 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs774523614 CA5739183 |
479 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189380298 CA378674190 |
480 | I>M | No |
ClinGen gnomAD |
|
|
rs137998421 CA5739181 |
480 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs137998421 CA5739180 |
480 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5739182 rs764401766 |
480 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs923294385 CA215336277 |
481 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs111767995 CA215336268 |
482 | S>P | No |
ClinGen Ensembl |
|
|
CA5739178 COSM3728016 rs769971747 |
487 | D>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA378674083 rs1328437960 |
490 | L>P | No |
ClinGen gnomAD |
|
|
rs1401634850 CA378674079 |
491 | S>T | No |
ClinGen gnomAD |
|
|
rs1220755949 CA378674066 |
492 | K>* | No |
ClinGen gnomAD |
|
|
rs773275564 CA5739176 |
494 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA215336244 rs984967202 |
496 | A>V | No |
ClinGen TOPMed |
|
|
CA5739173 rs778520434 |
498 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739171 rs1554894870 |
499 | E>Q | No |
ClinGen Ensembl |
|
|
CA378674015 rs1366889740 |
500 | F>L | No |
ClinGen gnomAD |
|
|
CA5739170 rs768381279 |
501 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA378673984 rs1360270470 |
504 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1741442 rs748857701 CA5739169 |
504 | D>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5739167 rs755621661 |
506 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs779600996 CA5739168 |
506 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA378673967 rs1589703636 |
507 | L>V | No |
ClinGen Ensembl |
|
|
rs536342432 CA5739164 |
510 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751987538 CA5739163 |
510 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763285087 CA5739161 |
511 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA215336168 rs898940891 |
514 | T>A | No |
ClinGen TOPMed |
|
|
rs752953061 CA5739160 |
515 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs759245344 CA5739111 |
517 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739110 rs776142986 |
519 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA378673632 rs1031271369 |
521 | H>P | No |
ClinGen gnomAD |
|
|
CA215330916 rs1031271369 |
521 | H>R | No |
ClinGen gnomAD |
|
|
CA378673622 rs1332283632 |
523 | P>S | No |
ClinGen gnomAD |
|
|
rs569247213 CA5739109 |
524 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772727338 CA5739108 |
525 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5739107 rs772727338 |
525 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5739106 rs772734640 |
526 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA378673602 rs772734640 |
526 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA378673598 rs1386382815 |
527 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 528 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000904889 rs78840782 CA5739105 |
529 | A>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA378673583 rs78840782 |
529 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78840782 CA378673584 |
529 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140700589 CA5739104 |
529 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378673578 rs1173672080 |
530 | A>T | No |
ClinGen gnomAD |
|
|
rs1453467109 CA378673575 |
530 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 534 | W>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378673532 rs1456085165 |
536 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA215330865 rs1035836371 |
537 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780155953 CA5739100 |
539 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378673515 rs780155953 |
539 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378673504 rs1261648325 |
540 | P>L | No |
ClinGen gnomAD |
|
|
rs756314439 CA5739099 |
541 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750504021 CA5739098 |
544 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1164151903 CA378673469 |
545 | F>L | No |
ClinGen gnomAD |
|
|
rs767603862 CA5739097 |
545 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA378673468 rs1343173236 |
546 | T>P | No |
ClinGen gnomAD |
|
|
CA378673466 rs1343173236 |
546 | T>S | No |
ClinGen gnomAD |
|
|
rs748898313 CA215330814 |
547 | L>R | No |
ClinGen Ensembl |
|
|
CA215330800 rs369765629 |
549 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1334911508 CA378673427 |
552 | K>E | No |
ClinGen gnomAD |
|
|
CA378673388 rs1193925331 |
557 | T>A | No |
ClinGen TOPMed |
|
|
CA378673356 rs1310880630 |
562 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1200999089 CA378673342 |
564 | E>* | No |
ClinGen Ensembl |
|
|
CA215330788 rs889146131 |
565 | Y>H | No |
ClinGen Ensembl |
|
|
CA5739074 rs147501142 |
566 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1360335221 CA378673312 |
566 | C>W | No |
ClinGen Ensembl |
|
|
CA5739073 rs766162520 |
566 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739071 rs750074814 |
570 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA5739070 COSM203453 rs767200461 |
572 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5739069 rs761424324 |
572 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5739066 rs769322239 |
574 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA5739065 rs763488463 |
575 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1290023257 CA378673234 |
577 | N>K | No |
ClinGen gnomAD |
|
|
rs1439698670 CA378673220 |
579 | S>L | No |
ClinGen gnomAD |
|
|
CA378673219 rs1334822424 |
580 | A>T | No |
ClinGen gnomAD |
|
|
CA378673196 rs144835764 |
583 | M>K | No |
ClinGen ESP gnomAD |
|
|
CA215329330 rs144835764 |
583 | M>T | No |
ClinGen ESP gnomAD |
|
|
rs1406605286 CA378673187 |
584 | A>V | No |
ClinGen gnomAD |
|
|
CA5739061 rs371698020 |
585 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375352043 CA5739062 |
585 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378673169 rs1293387248 |
587 | I>M | No |
ClinGen TOPMed |
|
|
CA5739060 rs368660749 |
587 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5739059 rs771082972 COSM3414801 |
588 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5739057 rs374157987 |
588 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374157987 CA5739058 |
588 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754910755 CA5739056 |
589 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs528964683 CA5739054 |
592 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1209400614 CA378673141 |
593 | E>K | No |
ClinGen gnomAD |
|
|
rs755929633 CA5739053 |
597 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5739052 rs371509912 |
597 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5739051 rs767302873 |
598 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763675474 CA5739049 |
599 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739048 rs763675474 |
599 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5739047 rs763427615 |
601 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5739045 rs765597272 |
604 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA378673052 rs1391487727 |
607 | F>L | No |
ClinGen gnomAD |
|
|
rs771173173 CA5739043 |
608 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs771173173 CA5739042 |
608 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 616 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564821887 CA378672991 |
616 | I>V | No |
ClinGen Ensembl |
|
|
rs561536636 CA5739041 |
617 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772175482 CA5739039 |
619 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772175482 CA5739040 |
619 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM915883 rs1189315557 CA378672948 |
623 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5739037 rs780042201 |
623 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976315382 CA215329112 |
624 | Y>* | No |
ClinGen TOPMed |
|
|
rs755958826 CA5739036 |
626 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA378672924 COSM1560895 rs1213636050 |
626 | M>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1226188514 CA378672857 |
628 | I>V | No |
ClinGen gnomAD |
|
|
rs1182777957 CA378672844 |
629 | A>P | No |
ClinGen TOPMed |
|
|
rs781191427 CA5739014 |
630 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373474850 CA5739015 |
630 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5739013 rs369261174 |
631 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746736494 CA5739012 |
633 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA378672809 rs1352947020 |
633 | D>N | No |
ClinGen gnomAD |
|
|
rs1352947020 CA378672811 |
633 | D>Y | No |
ClinGen gnomAD |
|
|
CA5739011 rs777495871 |
634 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs757936936 CA5739010 |
636 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5739009 rs752281412 |
636 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335188254 CA378672770 |
637 | N>S | No |
ClinGen TOPMed |
|
|
rs917380408 CA215328477 |
641 | L>V | No |
ClinGen TOPMed |
|
|
rs778254765 CA5739007 |
642 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754326853 CA5739005 |
643 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs755527693 CA5739006 |
643 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5739004 rs140975050 |
644 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140975050 CA5739003 |
644 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378672679 rs1564821616 |
645 | Q>H | No |
ClinGen Ensembl |
|
|
CA378672672 rs1274501522 |
646 | V>A | No |
ClinGen gnomAD |
|
|
rs750725127 CA5739002 |
646 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs767814391 CA5739001 |
647 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954232013 CA215328413 |
655 | Y>H | No |
ClinGen Ensembl |
|
|
rs921497546 CA215328409 |
657 | I>V | No |
ClinGen Ensembl |
|
|
rs1297758732 CA378672555 |
658 | T>A | No |
ClinGen gnomAD |
|
|
CA378672556 rs1297758732 |
658 | T>P | No |
ClinGen gnomAD |
|
|
CA215328398 rs974349392 |
660 | K>M | No |
ClinGen gnomAD |
|
| rs751051377 | 660 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962376016 CA215328390 |
661 | M>V | No |
ClinGen gnomAD |
|
|
CA215328381 rs1003925356 |
663 | E>G | No |
ClinGen gnomAD |
|
|
rs377344904 CA5738996 |
663 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378672489 rs1255247122 |
664 | W>R | No |
ClinGen TOPMed |
|
|
CA5738995 rs759613923 |
665 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5738992 rs746824503 |
669 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 672 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378672373 rs1488594951 |
673 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA215328369 rs1024040422 |
674 | E>G | No |
ClinGen Ensembl |
|
|
rs1181626133 CA378672370 |
674 | E>Q | No |
ClinGen TOPMed |
|
|
CA378672347 rs771795482 |
675 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378672336 rs1334799546 |
676 | N>S | No |
ClinGen gnomAD |
|
|
rs747732972 CA5738988 |
677 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs747732972 CA378672325 |
677 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA378672318 rs1315573882 |
678 | I>V | No |
ClinGen gnomAD |
|
|
rs373070736 CA5738987 |
683 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1174600109 CA378672220 |
686 | P>L | No |
ClinGen TOPMed |
|
|
rs772781463 CA215328294 |
687 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs772781463 CA378672217 |
687 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA378672218 rs772781463 |
687 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs753275231 CA5738985 |
688 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 689 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233661959 CA378671659 |
690 | M>T | No |
ClinGen gnomAD |
|
|
CA378671643 rs1366103098 |
691 | Q>R | No |
ClinGen gnomAD |
|
|
CA5738968 rs771021543 |
694 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773108161 CA5738966 |
695 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs773108161 CA5738967 |
695 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1288102464 CA378671570 |
696 | Y>* | No |
ClinGen gnomAD |
|
|
rs771750217 CA5738965 |
697 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312090689 CA378671546 |
698 | F>C | No |
ClinGen TOPMed |
|
|
rs1390303713 CA378671503 |
701 | L>Q | No |
ClinGen gnomAD |
|
|
CA5738961 rs748816351 |
702 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767167630 CA5738960 |
705 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs917709466 CA215326982 |
706 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA215326980 rs138137798 |
710 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs138137798 CA378671380 |
710 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA378671362 rs1486818513 |
711 | Q>H | No |
ClinGen gnomAD |
|
|
CA5738959 rs372661896 |
711 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5738958 rs372661896 |
711 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA215326923 rs531809485 |
715 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5738954 rs531809485 |
715 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5738953 rs531809485 |
715 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1564821030 CA378671291 |
716 | H>Y | No |
ClinGen Ensembl |
|
|
rs761387659 CA215326913 |
718 | S>F | No |
ClinGen gnomAD |
|
|
CA378671236 rs1415321780 |
720 | V>A | No |
ClinGen gnomAD |
|
|
rs773018038 CA5738949 |
720 | V>L | No |
ClinGen ExAC |
|
|
CA378671241 rs773018038 |
720 | V>M | No |
ClinGen ExAC |
|
|
CA5738947 rs767417807 |
722 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA378671175 rs1414838010 |
724 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 727 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150831914 CA5738943 |
728 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5738941 rs142010622 |
729 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748920499 CA5738942 |
729 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5738940 rs199520716 |
730 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1305856161 CA378671073 |
731 | E>A | No |
ClinGen gnomAD |
|
|
rs745318505 CA378671074 |
731 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745318505 CA5738939 |
731 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138878584 CA5738938 |
732 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1255902924 CA378671068 |
732 | T>P | No |
ClinGen gnomAD |
|
|
CA378671060 rs1275317135 |
733 | C>Y | No |
ClinGen gnomAD |
|
|
rs1194164076 CA378671048 COSM1297048 |
735 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1564820982 CA378671040 |
736 | T>A | No |
ClinGen Ensembl |
|
|
rs368995976 CA5738936 |
737 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35941699 CA215326833 |
739 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA378671016 rs778249535 |
739 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758741108 CA5738934 |
741 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs374910849 CA5738932 |
741 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374910849 CA5738933 |
741 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q7L7V1
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| spliceosomal complex | Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43329 | hrpA | ATP-dependent RNA helicase HrpA | Escherichia coli (strain K12) | PR |
| O60231 | DHX16 | Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 | Homo sapiens (Human) | PR |
| Q8IX18 | DHX40 | Probable ATP-dependent RNA helicase DHX40 | Homo sapiens (Human) | PR |
| Q6P158 | DHX57 | Putative ATP-dependent RNA helicase DHX57 | Homo sapiens (Human) | PR |
| O43143 | DHX15 | ATP-dependent RNA helicase DHX15 | Homo sapiens (Human) | PR |
| Q9H2U1 | DHX36 | ATP-dependent DNA/RNA helicase DHX36 | Homo sapiens (Human) | PR |
| Q8IY37 | DHX37 | Probable ATP-dependent RNA helicase DHX37 | Homo sapiens (Human) | PR |
| Q92620 | DHX38 | Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEEGLECPN | SSSEKRYFPE | SLDSSDGDEE | EVLACEDLEL | NPFDGLPYSS | RYYKLLKERE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DLPIWKEKYS | FMENLLQNQI | VIVSGDAKCG | KSAQVPQWCA | EYCLSIHYQH | GGVICTQVHK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QTVVQLALRV | ADEMDVNIGH | EVGYVIPFEN | CCTNETILRY | CTDDMLQREM | MSNPFLGSYG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VIILDDIHER | SIATDVLLGL | LKDVLLARPE | LKLIINSSPH | LISKLNSYYG | NVPVIEVKNK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HPVEVVYLSE | AQKDSFESIL | RLIFEIHHSG | EKGDIVVFLA | CEQDIEKVCE | TVYQGSNLNP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DLGELVVVPL | YPKEKCSLFK | PLDETEKRCQ | VYQRRVVLTT | SSGEFLIWSN | SVRFVIDVGV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ERRKVYNPRI | RANSLVMQPI | SQSQAEIRKQ | ILGSSSSGKF | FCLYTEEFAS | KDMTPLKPAE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MQEANLTSMV | LFMKRIDIAG | LGHCDFMNRP | APESLMQALE | DLDYLAALDN | DGNLSEFGII |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MSEFPLDPQL | SKSILASCEF | DCVDEVLTIA | AMVTAPNCFS | HVPHGAEEAA | LTCWKTFLHP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EGDHFTLISI | YKAYQDTTLN | SSSEYCVEKW | CRDYFLNCSA | LRMADVIRAE | LLEIIKRIEL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PYAEPAFGSK | ENTLNIKKAL | LSGYFMQIAR | DVDGSGNYLM | LTHKQVAQLH | PLSGYSITKK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MPEWVLFHKF | SISENNYIRI | TSEISPELFM | QLVPQYYFSN | LPPSESKDIL | QQVVDHLSPV |
| 730 | 740 | ||||
| STMNKEQQMC | ETCPETEQRC | TLQ |