Q8IU68
PR
Gene name |
TMC8 (EVER2, EVIN2) |
Protein name |
Transmembrane channel-like protein 8 |
Names |
Epidermodysplasia verruciformis protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:147138 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8IU68
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IU68-F1 | Predicted | AlphaFoldDB |
715 variants for Q8IU68
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000707332 rs1259899112 |
3 | L>L | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071175 rs867374058 CA294359277 |
4 | P>L | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs779748966 RCV002235411 CA8796322 |
9 | S>P | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001342037 CA401238623 rs1222145664 |
11 | R>G | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002234394 rs748499539 CA8796324 |
12 | A>V | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001052208 rs753691901 CA8796335 |
36 | V>M | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs374017520 CA8796339 RCV002544464 RCV000932934 |
40 | P>A | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8796340 RCV002233412 rs779552203 |
45 | D>H | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA401239282 RCV001223962 rs1296523340 |
46 | K>R | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001214624 CA401239453 rs1417544539 |
53 | R>G | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1417544539 RCV001321886 |
53 | R>W | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002234348 CA401239567 rs1598895511 |
59 | Q>* | Epidermodysplasia verruciformis (ev) Epidermodysplasia verruciformis [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757695775 RCV002233654 CA294359477 |
62 | R>H | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001307963 CA8796370 rs779428022 |
65 | R>L | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001213038 rs2074996382 |
65 | R>W | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772730789 CA8796373 RCV001487994 |
76 | R>C | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001060819 CA401239998 rs1035555956 |
78 | R>W | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001203953 CA294359506 rs968762906 |
84 | L>V | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000630741 CA8796376 RCV002528842 rs537981704 |
86 | R>G | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002233862 CA401240259 rs1222174878 |
90 | L>F | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1248372306 CA401241461 RCV001233036 |
107 | R>W | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs61755873 RCV000807118 CA8796426 |
130 | F>L | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1445609111 CA401242133 RCV001235437 |
143 | P>T | Variant assessed as Somatic; 0.0 impact. Epidermodysplasia verruciformis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA8796468 RCV001296488 rs141101059 |
154 | P>H | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1710844 RCV001327128 CA8796469 rs762677074 |
157 | R>C | Variant assessed as Somatic; 0.0 impact. skin Epidermodysplasia verruciformis [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs761860622 RCV001065597 CA8796475 |
165 | R>S | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8796503 rs138940132 RCV002234277 |
178 | A>D | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8796504 RCV001298656 rs748873052 |
179 | F>L | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001350905 rs756858053 CA8796505 |
183 | Y>C | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs558832885 RCV001302087 CA8796530 |
202 | R>C | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002533634 rs374504400 CA8796532 RCV002233367 |
202 | R>H | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001217280 CA294360653 rs759778569 |
206 | L>V | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760578642 RCV001301340 CA8796538 |
209 | P>L | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8796552 RCV002547396 rs779111855 RCV001340089 |
222 | R>Q | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8796551 rs117156381 RCV000630763 |
222 | R>W | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000813769 rs376873435 CA8796582 |
231 | K>N | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002235560 rs757640069 CA8796587 |
240 | A>V | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001205420 CA401244097 rs1213988715 |
249 | S>L | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs150810138 CA8796595 RCV001048606 |
255 | R>Q | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001213134 rs2075131794 |
258 | E>K | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240797 CA294364735 rs767152216 |
267 | I>M | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs773623676 RCV000630743 CA8796625 |
274 | E>D | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8796628 RCV001225379 rs751943470 |
276 | E>G | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767535431 RCV001040556 |
279 | R>G | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806187 CA8796632 rs372510006 |
279 | R>H | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001338309 rs370405566 CA8796639 |
289 | R>W | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002528843 CA8796644 rs140623039 RCV002234395 |
292 | T>M | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8796651 rs373918852 RCV003166231 RCV000803583 |
295 | R>H | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8796654 rs778554801 RCV000793403 |
301 | R>W | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA8796658 RCV000687435 rs149997470 RCV002544778 |
305 | L>F | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000898837 rs1598911159 CA915952222 |
306 | N>I | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_023964 RCV001516546 RCV001838628 RCV000455804 CA8796659 rs7208422 RCV001724011 |
306 | N>I | Epidermodysplasia verruciformis, susceptibility to, 2 Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000801047 RCV002537129 rs375213113 CA8796665 |
313 | A>V | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001059918 rs2075166863 |
314 | I>T | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322381 rs2075167796 |
322 | K>N | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8796670 rs530521432 RCV002234373 |
323 | Y>C | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs769031304 RCV001217713 CA8796705 |
330 | E>K | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000527343 rs112802399 RCV001683555 CA8796711 |
342 | G>W | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001212495 CA8796713 COSM1599923 rs141819789 |
345 | A>T | central_nervous_system Epidermodysplasia verruciformis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs760559122 CA8796717 RCV000807311 |
355 | F>L | Epidermodysplasia verruciformis, susceptibility to, 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001390398 CA117047 RCV000005013 rs121908330 |
362 | E>* | Epidermodysplasia verruciformis, susceptibility to, 2 Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
| VAR_081777 | 362 | E>del | EV2 [UniProt] | Yes | UniProt |
|
rs150546646 CA8796745 RCV001281052 RCV001703186 RCV003224314 RCV000542077 |
390 | V>I | Epidermodysplasia verruciformis, susceptibility to, 1 Epidermodysplasia verruciformis, susceptibility to, 2 Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA401247445 rs150546646 RCV002235334 |
390 | V>L | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000822350 CA8796749 rs149304896 |
396 | I>V | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2075258218 RCV001219988 |
399 | I>V | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000807232 rs746051835 CA8796753 |
402 | D>E | Epidermodysplasia verruciformis, susceptibility to, 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs76467743 RCV001325279 |
403 | K>N | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2075259264 RCV001301744 |
412 | N>missing | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049484 CA8796761 RCV002553202 rs772650292 |
412 | N>S | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002234801 rs545052827 CA8796765 |
413 | V>F | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs545052827 CA401248201 RCV002234396 |
413 | V>I | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs542103664 RCV001316131 CA294366820 |
418 | C>W | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2075270806 RCV001232909 |
425 | E>missing | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8796804 RCV001053904 rs370144998 |
439 | V>M | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001070385 rs144134870 CA8796808 |
442 | A>T | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001281030 RCV003224550 rs2075272237 |
442 | A>V | Epidermodysplasia verruciformis, susceptibility to, 1 Epidermodysplasia verruciformis, susceptibility to, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8796850 rs142790683 RCV001207371 |
454 | D>Y | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000859959 RCV003224352 RCV001729665 CA8796853 RCV000630738 rs151076155 |
455 | R>Q | Epidermodysplasia verruciformis, susceptibility to, 1 Epidermodysplasia verruciformis, susceptibility to, 2 Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs560274584 CA8796852 RCV001070140 |
455 | R>W | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001219600 CA8796856 rs764442700 |
459 | R>W | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2075281016 RCV001326171 |
468 | E>L | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8796863 rs528085214 RCV000686197 |
469 | F>L | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA401250451 rs1288376053 RCV001047581 |
470 | L>R | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001326954 rs2075281876 |
478 | I>V | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8796866 RCV001327862 rs771242674 |
479 | V>M | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000972028 rs139756868 CA8796876 RCV002548362 |
488 | G>S | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs754440009 CA8796881 RCV001223879 |
500 | S>N | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs11651675 VAR_052337 CA8796884 RCV000547731 RCV001662534 |
501 | V>I | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147922298 RCV002234393 CA8796886 |
505 | L>F | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1002160081 RCV000768341 CA294367002 RCV003224462 |
509 | I>V | Epidermodysplasia verruciformis, susceptibility to, 1 Epidermodysplasia verruciformis, susceptibility to, 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001317483 rs2075290050 |
518 | S>missing | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs865835847 RCV001052165 CA294367064 |
520 | A>T | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs756911102 RCV001308423 CA8796926 |
523 | R>Q | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8796928 rs144120533 RCV001703187 RCV000526020 |
524 | P>L | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001348308 CA8796929 COSM117584 rs199993214 |
526 | R>C | ovary Epidermodysplasia verruciformis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002533587 CA8796930 RCV000700258 rs201477740 COSM1680110 |
526 | R>H | large_intestine Epidermodysplasia verruciformis Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1383156201 CA401251354 RCV002233921 |
528 | S>P | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8796932 rs201607836 RCV001296608 |
530 | S>F | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1290549286 RCV002234355 CA401251498 COSM1666316 |
546 | A>V | eye Epidermodysplasia verruciformis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs1350592733 CA401251535 RCV002234284 |
550 | G>D | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8796962 RCV001063406 rs761173794 RCV003160519 |
563 | G>S | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2075296638 RCV001301286 |
567 | N>S | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA401251908 RCV001235381 rs1225829294 |
570 | A>S | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1598923748 RCV000815469 |
583 | L>missing | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001348926 rs772823217 CA8796981 |
598 | A>T | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8796986 RCV001051359 RCV002553251 rs369040695 |
606 | M>I | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002233222 rs201296911 CA8797061 |
612 | T>M | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs571040732 RCV001345239 CA8797065 |
615 | V>I | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2075312611 RCV001313259 |
618 | T>N | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369861947 CA8797073 RCV002534445 RCV000705822 |
629 | R>L | Epidermodysplasia verruciformis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM437652 rs139972217 CA8797112 RCV003224315 RCV002060293 RCV000530925 |
661 | P>L | Epidermodysplasia verruciformis, susceptibility to, 1 Epidermodysplasia verruciformis, susceptibility to, 2 Epidermodysplasia verruciformis breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001312934 CA401254559 rs1237055200 |
680 | C>Y | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8797127 RCV001037208 rs781413576 |
698 | A>T | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2075363469 RCV001051358 |
702 | R>H | Epidermodysplasia verruciformis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA401254768 rs1434316891 RCV003224508 RCV001027807 |
707 | G>E | Epidermodysplasia verruciformis, susceptibility to, 1 Epidermodysplasia verruciformis, susceptibility to, 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000794052 rs1187732896 CA401254907 |
721 | P>A | Epidermodysplasia verruciformis, susceptibility to, 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs745434388 CA8796320 |
3 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs771683931 CA8796321 |
5 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401238490 rs1173669183 |
5 | R>W | No |
ClinGen gnomAD |
|
|
CA294359283 rs907613804 |
6 | S>L | No |
ClinGen TOPMed |
|
|
rs1448315757 CA401238529 |
7 | V>M | No |
ClinGen gnomAD |
|
|
CA401238563 rs1359422042 |
8 | S>* | No |
ClinGen gnomAD |
|
|
CA401238583 rs1279209826 |
9 | S>L | No |
ClinGen gnomAD |
|
|
CA401238587 rs1345459696 |
10 | E>K | No |
ClinGen gnomAD |
|
|
rs1265094561 CA401238624 |
11 | R>Q | No |
ClinGen gnomAD |
|
|
rs1222145664 CA401238622 |
11 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA401238654 rs1289204777 |
13 | P>T | No |
ClinGen TOPMed |
|
|
rs1243542376 CA401238699 |
14 | G>E | No |
ClinGen gnomAD |
|
|
CA401238711 rs1343244600 |
15 | V>E | No |
ClinGen TOPMed |
|
|
rs1568011474 CA401238727 |
16 | P>L | No |
ClinGen Ensembl |
|
|
rs1568011503 CA401238819 |
18 | P>L | No |
ClinGen Ensembl |
|
|
rs1568011503 CA401238832 |
18 | P>R | No |
ClinGen Ensembl |
|
|
rs900139392 CA294359301 |
18 | P>S | No |
ClinGen TOPMed |
|
|
rs1197114833 CA401238863 |
20 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 20 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431330889 CA401238872 |
20 | E>V | No |
ClinGen gnomAD |
|
|
rs1414606577 CA401238905 |
21 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1474594280 CA401238956 |
23 | E>A | No |
ClinGen TOPMed |
|
|
rs1343120953 CA401238952 |
23 | E>K | No |
ClinGen gnomAD |
|
|
rs542262836 CA8796328 |
25 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401239007 rs1224236608 |
26 | M>L | No |
ClinGen TOPMed |
|
|
rs145016347 CA8796329 |
26 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401239045 rs759727058 |
28 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796330 rs759727058 |
28 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403479588 CA401239043 |
28 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA294359316 rs386799492 |
29 | L>M | No |
ClinGen Ensembl |
|
|
rs1037469341 CA401239066 |
30 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1037469341 CA401239069 |
30 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1037469341 CA294359330 |
30 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8796331 rs767843139 |
31 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1217529235 CA401239100 |
32 | S>C | No |
ClinGen gnomAD |
|
|
rs1318992072 CA401239093 |
32 | S>P | No |
ClinGen gnomAD |
|
|
CA401239116 rs1286486208 |
33 | G>E | No |
ClinGen gnomAD |
|
|
rs969849051 CA294359347 |
37 | R>L | No |
ClinGen Ensembl |
|
|
rs1014727491 CA294359354 |
38 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1405112173 CA401239180 |
38 | G>R | No |
ClinGen gnomAD |
|
|
rs374017520 CA401239198 |
40 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1598893828 CA401239211 |
41 | Y>C | No |
ClinGen Ensembl |
|
|
rs1350995817 CA401239236 |
43 | M>K | No |
ClinGen gnomAD |
|
|
CA401239237 rs1350995817 |
43 | M>T | No |
ClinGen gnomAD |
|
|
CA401239232 rs1305314590 |
43 | M>V | No |
ClinGen gnomAD |
|
|
CA401239257 rs1035585680 CA294359363 |
44 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA401239250 rs1416488031 |
44 | M>T | No |
ClinGen gnomAD |
|
|
CA401239296 rs1598893920 |
47 | R>P | No |
ClinGen Ensembl |
|
|
CA294359375 rs867748406 |
48 | L>I | No |
ClinGen Ensembl |
|
|
rs1314713220 CA401239341 |
49 | I>M | No |
ClinGen gnomAD |
|
|
rs569316966 CA294359469 |
50 | W>* | No |
ClinGen 1000Genomes |
|
|
CA401239439 rs1326043159 |
51 | Q>H | No |
ClinGen gnomAD |
|
|
CA401239459 rs1429828163 |
53 | R>Q | No |
ClinGen gnomAD |
|
|
CA401239468 rs1268145541 |
54 | E>K | No |
ClinGen gnomAD |
|
|
rs1044475107 CA294359472 |
56 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1044475107 CA401239506 |
56 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1044475107 CA401239502 |
56 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA401239518 rs1195275056 CA401239517 |
57 | G>R | No |
ClinGen TOPMed |
|
|
CA401239553 rs1261977016 |
58 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 60 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401239612 rs1320875543 |
60 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1201674417 CA401239632 CA401239635 |
61 | L>F | No |
ClinGen gnomAD |
|
|
CA401239644 rs1278947456 |
62 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs757695775 CA294359480 |
62 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757695775 CA8796369 |
62 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401239682 rs1191517503 |
64 | Q>* | No |
ClinGen gnomAD |
|
|
CA401239711 rs779428022 |
65 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401239758 rs1228814530 |
66 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 67 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs921677436 CA294359483 |
69 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1427810321 CA401239859 |
71 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397714168 CA401239871 |
72 | T>S | No |
ClinGen TOPMed |
|
|
rs1598895695 CA401239898 |
73 | V>A | No |
ClinGen Ensembl |
|
|
CA8796372 rs746342020 |
75 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401239954 rs1399133417 |
75 | R>K | No |
ClinGen gnomAD |
|
|
CA401239955 rs1399133417 |
75 | R>T | No |
ClinGen gnomAD |
|
|
CA401239978 rs1387954016 |
76 | R>P | No |
ClinGen TOPMed |
|
|
CA294359493 rs955978383 |
78 | R>Q | No |
ClinGen TOPMed |
|
|
rs1021551980 CA294359504 |
83 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1021551980 CA294359502 |
83 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1052765172 CA294359508 |
85 | A>D | No |
ClinGen TOPMed |
|
|
CA401240159 rs1202932943 |
86 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA401240155 rs537981704 |
86 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 87 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288621413 CA401240171 |
87 | G>S | No |
ClinGen gnomAD |
|
|
rs1028681750 CA294359512 |
91 | W>* | No |
ClinGen gnomAD |
|
|
rs1256537732 CA401240323 |
92 | E>D | No |
ClinGen TOPMed |
|
|
rs1598895968 CA401240309 |
92 | E>K | No |
ClinGen Ensembl |
|
|
CA294359515 rs954490437 |
93 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA401240353 rs1283451562 |
94 | A>S | No |
ClinGen TOPMed |
|
|
rs1283451562 CA401240349 |
94 | A>T | No |
ClinGen TOPMed |
|
|
CA401240373 rs1328830654 |
95 | L>F | No |
ClinGen TOPMed |
|
|
CA401240482 rs1468807538 |
99 | G>R | No |
ClinGen gnomAD |
|
|
rs1598896112 CA401240514 |
100 | G>C | No |
ClinGen Ensembl |
|
|
rs780579678 CA8796410 |
101 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs780579678 CA401241381 |
101 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs755470929 CA8796412 |
103 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401241408 rs755470929 |
103 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433477433 CA401241416 |
103 | G>V | No |
ClinGen TOPMed |
|
|
rs759253214 CA8796413 |
107 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759253214 CA294359694 |
107 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796414 rs748223948 |
109 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA401241489 rs1481338794 |
109 | Y>H | No |
ClinGen TOPMed |
|
|
CA401241564 rs1246721342 |
113 | L>F | No |
ClinGen gnomAD |
|
|
CA401241570 rs1441114022 |
113 | L>H | No |
ClinGen gnomAD |
|
|
rs769970838 CA294359707 |
114 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796416 rs778033380 |
114 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401241595 rs778033380 |
114 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796415 rs769970838 |
114 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749067644 CA294359716 |
116 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401241667 rs1166689406 |
118 | L>P | No |
ClinGen gnomAD |
|
|
rs1166689406 CA401241670 |
118 | L>Q | No |
ClinGen gnomAD |
|
|
rs1391927601 CA401241720 |
120 | N>S | No |
ClinGen gnomAD |
|
|
CA401241743 rs1234202350 |
121 | L>V | No |
ClinGen TOPMed |
|
|
CA401241759 rs1329338688 |
122 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1226397114 CA401241829 |
126 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8796423 rs760331728 |
127 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8796424 rs760331728 |
127 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1197485791 CA401241867 |
128 | A>T | No |
ClinGen gnomAD |
|
|
rs1303831949 CA401241891 |
129 | S>G | No |
ClinGen TOPMed |
|
|
rs1236529856 CA401241942 |
131 | V>G | No |
ClinGen gnomAD |
|
|
rs144981818 CA8796427 CA8796429 |
131 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144981818 CA8796428 |
131 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8796431 rs752816881 |
132 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796432 rs756241753 |
133 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756241753 CA401241980 |
133 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598899741 CA401241990 |
134 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 134 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs556435283 CA8796433 |
134 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401242018 rs1168633691 |
135 | L>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM3820759 rs140601157 CA401242020 |
136 | V>F | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs140601157 CA294359785 |
136 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8796434 rs376724583 |
137 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401242077 rs1254418654 |
139 | R>C | No |
ClinGen TOPMed |
|
|
rs549283975 CA8796435 |
139 | R>H | No |
ClinGen ExAC |
|
|
CA294359795 rs867148573 |
140 | P>L | No |
ClinGen Ensembl |
|
|
CA401242094 rs1354485334 |
140 | P>S | No |
ClinGen TOPMed |
|
|
CA8796437 rs569507457 |
141 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569507457 CA294359800 |
141 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs749599063 | 142 | D>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745692241 CA8796439 |
144 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1296104938 CA401242162 |
145 | P>R | No |
ClinGen gnomAD |
|
|
rs772044939 CA401242176 |
146 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796440 rs772044939 |
146 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796442 rs746959190 |
149 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1001723568 CA294360046 |
150 | T>I | No |
ClinGen Ensembl |
|
|
CA8796443 rs768214963 |
150 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs769482747 CA8796467 |
151 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1401240447 CA401242319 |
152 | Q>R | No |
ClinGen Ensembl |
|
|
rs1328913192 CA401242332 |
153 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs141101059 CA401242362 |
154 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772256858 CA8796470 |
157 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401242459 rs1238460007 |
159 | S>Y | No |
ClinGen gnomAD |
|
|
CA8796471 rs377434153 |
160 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs913271027 CA294360091 |
161 | P>A | No |
ClinGen gnomAD |
|
|
rs1265875883 CA401242494 |
162 | G>D | No |
ClinGen gnomAD |
|
|
CA8796474 rs753915057 |
163 | V>I | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1165259291 CA401242575 |
167 | H>Y | No |
ClinGen gnomAD |
|
|
rs765373712 CA8796476 |
168 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796477 rs750545069 |
170 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8796478 rs758680213 |
173 | V>I | No |
ClinGen ExAC |
|
|
CA401242687 rs1598902322 COSM369567 |
174 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 176 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598905175 CA401242893 |
182 | T>P | No |
ClinGen Ensembl |
|
|
CA8796506 rs778599392 |
186 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs771117140 CA294360536 |
186 | Y>H | No |
ClinGen TOPMed |
|
|
rs768942830 CA8796508 |
187 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768942830 CA401242948 |
187 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796512 rs748557129 |
188 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556744227 CA8796510 |
188 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748557129 CA8796511 |
188 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294360571 rs903461633 |
190 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8796515 rs766694820 |
190 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774656982 CA8796516 |
191 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201178150 CA8796518 |
192 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1404872630 CA401242994 |
192 | G>R | No |
ClinGen gnomAD |
|
|
rs752557244 CA401243007 |
193 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752557244 CA8796520 |
193 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764162625 CA8796522 |
196 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1033012865 CA294360614 |
197 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs138026813 CA8796526 |
198 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8796525 rs138026813 |
198 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8796528 rs781390676 |
201 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8796531 rs558832885 |
202 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1261737066 CA401243123 |
204 | A>D | No |
ClinGen gnomAD |
|
|
CA8796535 rs759778569 |
206 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158371368 CA401243167 |
208 | S>G | No |
ClinGen gnomAD |
|
|
CA8796537 rs775147024 |
208 | S>N | No |
ClinGen ExAC |
|
|
rs760578642 CA8796539 |
209 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401243191 rs1289538451 |
210 | L>P | No |
ClinGen gnomAD |
|
|
rs749985765 CA8796543 |
212 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749985765 CA401243210 |
212 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401243229 rs1385120788 |
214 | L>F | No |
ClinGen gnomAD |
|
|
CA8796544 rs758015647 |
216 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA401243260 rs1268584332 |
217 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs368858197 CA8796545 |
218 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752988279 CA401243272 |
218 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796546 rs752988279 |
218 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756443036 CA8796547 |
219 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA294360779 rs779111855 |
222 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796554 rs772173417 |
223 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM985030 CA8796553 rs200991553 |
223 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
rs1406258600 CA401243859 |
224 | M>I | No |
ClinGen TOPMed |
|
|
CA401243870 rs1598907707 |
225 | V>G | No |
ClinGen Ensembl |
|
|
CA401243861 rs1295042083 |
225 | V>M | No |
ClinGen gnomAD |
|
|
rs1394280145 CA401243888 |
227 | G>R | No |
ClinGen TOPMed |
|
|
CA401243912 rs1598907740 |
229 | P>A | No |
ClinGen Ensembl |
|
|
CA8796579 COSM2745572 rs773074189 |
229 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs773074189 CA8796580 |
229 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 230 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401243925 rs1598907800 |
230 | Q>P | No |
ClinGen Ensembl |
|
|
CA8796581 rs765872959 |
231 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs892941623 CA294364623 |
232 | T>A | No |
ClinGen TOPMed |
|
|
rs759201383 CA8796584 |
234 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1184180314 CA401243985 |
235 | G>C | No |
ClinGen gnomAD |
|
|
CA8796585 rs767113547 |
238 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA401244028 rs1477563668 |
238 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8796586 rs754248705 |
239 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA401244041 rs757640069 |
240 | A>E | No |
ClinGen ExAC gnomAD |
|
|
COSM985032 CA8796589 rs142161296 |
244 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201752831 CA8796591 |
245 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201752831 CA294364664 |
245 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401244078 rs1217513833 |
246 | V>G | No |
ClinGen gnomAD |
|
|
rs373643486 CA294364670 |
246 | V>L | No |
ClinGen ESP TOPMed |
|
|
CA401244102 rs747099801 |
250 | W>* | No |
ClinGen ExAC TOPMed |
|
|
rs747099801 CA8796593 |
250 | W>L | No |
ClinGen ExAC TOPMed |
|
|
CA401244112 rs1437892586 |
251 | D>V | No |
ClinGen TOPMed |
|
|
rs1341050210 CA401244130 |
253 | C>F | No |
ClinGen gnomAD |
|
|
rs755225253 CA8796594 |
255 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796597 rs769510735 |
257 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796598 rs773021050 |
260 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294364714 rs951943240 |
265 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1475777591 CA401244314 |
266 | E>A | No |
ClinGen gnomAD |
|
|
CA8796599 rs554574402 |
266 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773877370 CA8796602 |
269 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1033578789 CA294364739 |
269 | N>S | No |
ClinGen Ensembl |
|
|
rs1375993029 CA401244374 |
270 | E>A | No |
ClinGen gnomAD |
|
|
rs767262179 CA8796603 |
270 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252317857 CA401244385 |
271 | F>I | No |
ClinGen TOPMed |
|
|
CA401244388 rs1252317857 |
271 | F>L | No |
ClinGen TOPMed |
|
|
rs561372656 CA8796605 |
272 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8796626 rs763287287 |
275 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA294365078 rs1055220606 |
276 | E>K | No |
ClinGen Ensembl |
|
|
CA401244607 rs1214620471 |
277 | E>D | No |
ClinGen gnomAD |
|
|
CA294365104 rs894949376 |
277 | E>K | No |
ClinGen TOPMed |
|
|
CA401244621 rs1237767907 |
278 | G>D | No |
ClinGen gnomAD |
|
|
rs767535431 CA8796630 |
279 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372510006 CA8796631 |
279 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372510006 CA401244633 |
279 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139386301 CA8796633 |
280 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401244639 rs139386301 |
280 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199502890 CA8796634 |
280 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139386301 CA294365115 |
280 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8796635 rs756941900 |
282 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA8796637 rs745747305 |
283 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA8796636 rs778802819 |
283 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598910802 CA401244754 |
288 | T>P | No |
ClinGen Ensembl |
|
|
CA294365128 rs545999151 |
289 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545999151 CA401244771 |
289 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8796640 rs545999151 |
289 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768411245 CA8796641 |
290 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs146776568 CA8796642 |
290 | A>V | No |
ClinGen ESP ExAC |
|
|
CA8796643 rs761529123 |
291 | Q>* | No |
ClinGen ExAC |
|
|
CA401244811 rs1362897706 |
291 | Q>R | No |
ClinGen gnomAD |
|
|
rs140623039 CA8796645 |
292 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8796647 rs768048698 |
293 | A>S | No |
ClinGen ExAC |
|
|
rs1257690334 CA401244889 |
294 | C>Y | No |
ClinGen gnomAD |
|
|
rs760798878 CA8796649 |
295 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796650 rs760798878 |
295 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757524526 CA401244928 |
297 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757524526 CA8796652 |
297 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1186836341 CA401245011 |
299 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs778554801 CA401245030 |
301 | R>G | No |
ClinGen ExAC TOPMed |
|
|
rs553175400 CA8796655 |
301 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553175400 CA8796656 |
301 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377215843 CA8796657 |
303 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs976302755 CA294365203 |
304 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1335357113 CA401245107 |
306 | N>H | No |
ClinGen TOPMed |
|
|
rs7208422 CA8796660 |
306 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8796662 rs200537277 |
307 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8796663 rs200537277 |
307 | G>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA294365212 rs761343022 |
308 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA294365223 rs898498308 |
309 | L>P | No |
ClinGen TOPMed |
|
|
CA401245235 rs1410826251 |
311 | V>A | No |
ClinGen TOPMed |
|
|
CA401245226 rs1277572212 |
311 | V>F | No |
ClinGen gnomAD |
|
|
CA401245329 rs1229967404 |
315 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA401245343 rs1252106960 |
315 | S>T | No |
ClinGen gnomAD |
|
|
CA8796666 rs540027573 |
316 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401245410 rs1179647988 |
317 | I>V | No |
ClinGen TOPMed |
|
|
rs1255352283 CA401245522 |
320 | A>T | No |
ClinGen gnomAD |
|
|
rs764033782 CA8796668 |
321 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765566118 CA8796671 |
325 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA401245737 rs1373263710 |
327 | N>K | No |
ClinGen gnomAD |
|
|
rs750233892 CA8796672 |
328 | K>Q | No |
ClinGen ExAC |
|
| TCGA novel | 328 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210048933 CA401245765 |
329 | E>K | No |
ClinGen TOPMed |
|
|
rs781684540 CA8796706 |
331 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796710 rs773445179 |
336 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 336 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 338 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 340 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 341 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401246086 rs1328226485 |
342 | G>E | No |
ClinGen gnomAD |
|
|
CA8796712 rs112802399 |
342 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 345 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294365554 rs868050795 |
346 | L>P | No |
ClinGen Ensembl |
|
|
CA401246189 rs1408670556 |
350 | L>P | No |
ClinGen TOPMed |
|
|
CA401246196 rs1225450626 |
351 | G>C | No |
ClinGen gnomAD |
|
|
rs767228332 CA8796715 |
352 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA401246206 rs1307614694 |
352 | P>S | No |
ClinGen gnomAD |
|
|
CA401246234 rs1314616549 |
356 | T>P | No |
ClinGen TOPMed |
|
|
CA401246263 rs1468613197 |
359 | V>L | No |
ClinGen gnomAD |
|
|
CA401246287 rs1374800033 |
361 | L>P | No |
ClinGen TOPMed |
|
|
CA8796719 rs121908330 |
362 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756899397 CA8796721 |
363 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA8796722 rs750061558 |
364 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420660324 CA401246364 |
368 | T>A | No |
ClinGen TOPMed |
|
|
CA8796724 rs137855965 |
368 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376717585 CA8796727 |
370 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444068598 CA401246418 |
373 | T>A | No |
ClinGen gnomAD |
|
|
CA294365626 rs1016511482 |
373 | T>I | No |
ClinGen TOPMed |
|
|
CA401247009 rs1279984885 |
376 | W>C | No |
ClinGen gnomAD |
|
|
CA294365638 rs929989738 |
376 | W>L | No |
ClinGen TOPMed |
|
|
rs764735652 CA8796743 |
378 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1234190837 CA401247137 |
380 | L>P | No |
ClinGen gnomAD |
|
|
CA294366527 rs1057423570 |
385 | L>F | No |
ClinGen gnomAD |
|
|
CA294366531 rs371962847 |
387 | M>I | No |
ClinGen ESP |
|
|
rs1281632268 CA401247437 |
389 | S>F | No |
ClinGen gnomAD |
|
|
CA401247587 rs1366182216 |
393 | G>R | No |
ClinGen TOPMed |
|
|
rs781595931 CA8796747 |
394 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs781595931 CA8796746 |
394 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs756681549 CA8796748 |
395 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA8796751 rs757338835 |
399 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA401247866 rs1315521617 |
403 | K>* | No |
ClinGen gnomAD |
|
|
CA401247883 rs1369875911 |
403 | K>R | No |
ClinGen TOPMed |
|
|
rs775351788 CA401247978 |
406 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775351788 CA8796755 |
406 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796756 rs753900323 |
406 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401247982 rs1302231365 |
406 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs768453587 CA401248075 |
409 | Y>H | No |
ClinGen ExAC TOPMed |
|
|
CA8796757 rs768453587 |
409 | Y>N | No |
ClinGen ExAC TOPMed |
|
|
CA8796759 rs761773953 |
410 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796760 rs764680437 |
411 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1203473515 CA401248164 |
412 | N>D | No |
ClinGen gnomAD |
|
|
CA8796763 rs376601283 |
412 | N>K | No |
ClinGen ESP TOPMed |
|
|
rs935160937 CA294366602 |
417 | Q>R | No |
ClinGen TOPMed |
|
|
CA8796793 rs750954308 |
418 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA401249267 rs1250938327 |
419 | W>* | No |
ClinGen gnomAD |
|
|
rs758343676 CA8796794 |
419 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401249295 rs780217025 |
421 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8796795 rs780217025 |
421 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs368534068 CA401249313 CA294366829 |
423 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368534068 CA294366827 |
423 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA294366837 rs1031937056 |
424 | G>A | No |
ClinGen TOPMed |
|
|
CA401249326 rs1366123975 |
424 | G>W | No |
ClinGen TOPMed |
|
|
rs1254854576 CA401249340 |
425 | E>D | No |
ClinGen gnomAD |
|
|
CA401249349 rs1422582789 |
426 | E>G | No |
ClinGen TOPMed |
|
|
CA8796801 rs769755409 |
434 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs777509517 CA8796802 |
436 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA401249573 rs1240386753 |
439 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 440 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8796805 rs774020797 |
440 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs529856329 CA401249600 |
441 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA294366848 rs749022372 |
444 | L>P | No |
ClinGen Ensembl |
|
|
rs1295154425 CA401249693 |
445 | V>A | No |
ClinGen gnomAD |
|
|
rs1268870806 CA401249708 |
446 | T>I | No |
ClinGen TOPMed |
|
|
rs146302673 CA8796809 |
448 | P>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA8796810 rs139474627 |
449 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1344385756 CA401249776 |
449 | R>W | No |
ClinGen gnomAD |
|
|
CA8796849 rs771295817 |
451 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs142790683 CA8796851 |
454 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401250097 rs151076155 |
455 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8796854 rs563561156 |
456 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1212224783 CA401250125 |
456 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 456 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401250157 rs1489009731 |
457 | S>L | No |
ClinGen gnomAD |
|
|
rs764442700 CA8796855 |
459 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532478080 CA8796857 |
459 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1399304988 CA401250234 |
460 | F>L | No |
ClinGen TOPMed |
|
|
rs923305213 CA294366939 |
462 | A>P | No |
ClinGen TOPMed |
|
|
CA401250291 rs1184594671 |
462 | A>V | No |
ClinGen TOPMed |
|
|
rs765155538 CA8796858 |
463 | W>* | No |
ClinGen ExAC |
|
|
CA401250309 rs765155538 |
463 | W>S | No |
ClinGen ExAC |
|
|
rs750338293 CA8796859 |
465 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs559358892 CA401250346 |
466 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559358892 CA8796861 |
466 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149327841 CA8796860 |
466 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1436901583 CA401250362 |
467 | E>G | No |
ClinGen gnomAD |
|
|
rs933539259 CA294366945 |
467 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA294366947 rs986417139 |
468 | E>* | No |
ClinGen TOPMed |
|
|
rs910691452 CA401250426 |
468 | E>G | No |
ClinGen TOPMed |
|
|
rs910691452 CA294366949 |
468 | E>V | No |
ClinGen TOPMed |
|
|
rs1371007530 CA401250432 |
469 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1371007530 CA401250433 |
469 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1272856492 CA401250456 |
471 | V>D | No |
ClinGen gnomAD |
|
|
CA401250454 rs747755714 |
471 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796865 rs747755714 |
471 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 473 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294366956 rs1053461998 |
473 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA294366958 rs892256719 |
477 | D>V | No |
ClinGen TOPMed |
|
|
rs199577034 CA8796868 |
480 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199577034 CA8796869 |
480 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796867 rs199577034 |
480 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757068872 CA294366967 |
481 | G>R | No |
ClinGen TOPMed |
|
|
rs760865817 CA8796871 |
482 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA8796872 rs764086912 |
483 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8796873 rs776873238 |
483 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs899770172 CA294366974 |
484 | V>G | No |
ClinGen Ensembl |
|
|
CA294366976 rs1046014409 CA401250882 |
487 | M>L | No |
ClinGen TOPMed |
|
|
CA294366978 rs906214304 |
487 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1484820172 CA401250944 |
491 | Y>H | No |
ClinGen TOPMed |
|
|
rs1033626567 CA294366982 |
492 | C>F | No |
ClinGen TOPMed |
|
|
rs372501838 CA294366984 |
493 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 494 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401250984 rs1598921802 |
494 | L>P | No |
ClinGen Ensembl |
|
|
rs1229828658 CA401251009 |
497 | L>R | No |
ClinGen TOPMed |
|
|
CA401251007 rs1289838231 |
497 | L>V | No |
ClinGen TOPMed |
|
|
CA401251020 rs1598921851 |
498 | L>P | No |
ClinGen Ensembl |
|
|
rs1412367726 CA401251022 |
499 | N>H | No |
ClinGen gnomAD |
|
|
rs780596418 CA8796882 |
500 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401251047 rs11651675 |
501 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 502 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401251069 rs1293944791 |
503 | L>V | No |
ClinGen gnomAD |
|
|
rs772553846 CA8796887 |
506 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780544042 CA8796889 |
506 | T>I | No |
ClinGen ExAC |
|
|
rs772553846 CA294366998 |
506 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs772871149 | 507 | F>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 508 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401251132 rs1002160081 |
509 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1168763921 CA401251137 |
509 | I>T | No |
ClinGen gnomAD |
|
|
rs1238301348 CA401251155 |
511 | K>* | No |
ClinGen gnomAD |
|
|
rs767418562 CA8796921 |
512 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs201514566 CA8796922 |
519 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401251303 rs1209142767 |
522 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8796927 rs756911102 |
523 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796925 rs147103093 |
523 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA401251342 rs1457489172 |
527 | A>T | No |
ClinGen gnomAD |
|
|
rs1163722365 CA401251358 |
528 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA401251357 rs1163722365 |
528 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 528 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8796931 rs748672438 |
529 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs201607836 CA401251377 |
530 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401251374 rs1407421340 |
530 | S>P | No |
ClinGen gnomAD |
|
|
CA8796933 rs778016694 |
531 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1290234504 CA401251440 |
538 | L>F | No |
ClinGen gnomAD |
|
|
rs1351153068 CA401251446 |
539 | L>F | No |
ClinGen gnomAD |
|
|
CA401251460 rs1271496815 |
541 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 543 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 544 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211348039 CA401251488 |
546 | A>T | No |
ClinGen gnomAD |
|
|
rs760629165 CA8796940 |
551 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA401251548 rs1186853321 |
552 | V>M | No |
ClinGen gnomAD |
|
|
CA401251563 rs1473980722 |
553 | V>G | No |
ClinGen gnomAD |
|
|
rs1248695277 CA401251564 |
554 | S>G | No |
ClinGen TOPMed |
|
|
rs1361117269 CA401251570 |
554 | S>I | No |
ClinGen TOPMed |
|
|
rs763573052 CA8796941 |
554 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 555 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776160590 CA8796942 |
555 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA294367115 rs1019271604 |
556 | I>N | No |
ClinGen TOPMed |
|
|
CA401251661 rs1353858763 |
557 | H>R | No |
ClinGen TOPMed |
|
|
CA8796957 rs563497141 |
558 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8796959 rs746919589 |
559 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA401251722 rs1434220569 |
560 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs532569131 CA8796960 |
561 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8796963 rs769354230 |
564 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772703811 CA8796964 |
571 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401251964 rs1342735309 |
573 | Q>R | No |
ClinGen gnomAD |
|
|
CA401251986 rs1403772813 |
574 | V>A | No |
ClinGen TOPMed |
|
|
rs767967741 CA8796966 |
576 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401252028 rs767967741 |
576 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8796969 rs764753165 |
577 | E>* | Epidermodysplasia verruciformis (ev) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401252037 rs764753165 |
577 | E>K | Epidermodysplasia verruciformis (ev) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401252083 rs1190868321 |
579 | V>A | No |
ClinGen gnomAD |
|
|
rs757215882 CA8796971 |
579 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA294367134 rs375895539 |
580 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA401252108 rs1454261675 |
581 | L>P | No |
ClinGen gnomAD |
|
|
rs779080880 CA8796972 |
582 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 582 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379512889 CA401252133 |
583 | L>F | No |
ClinGen gnomAD |
|
|
rs150356106 CA8796973 |
584 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401252191 rs1449491940 |
586 | I>T | No |
ClinGen TOPMed |
|
|
CA8796974 rs758660770 |
588 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA8796975 rs779822152 COSM241920 |
589 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs535003756 CA8796976 |
589 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs535003756 CA294367144 |
589 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1598923859 CA401252248 |
590 | A>G | No |
ClinGen Ensembl |
|
|
CA401252263 rs1365629172 |
591 | L>F | No |
ClinGen gnomAD |
|
|
CA294367146 rs926417850 |
595 | G>S | No |
ClinGen Ensembl |
|
|
CA8796978 rs780927655 |
596 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs748151582 CA8796980 CA401252429 |
597 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137975524 CA8796982 |
598 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1269207556 CA401252557 |
602 | P>L | No |
ClinGen gnomAD |
|
|
CA401252579 rs1598923979 |
603 | L>P | No |
ClinGen Ensembl |
|
|
CA8796984 rs775981986 |
604 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1356493268 CA401252603 |
605 | I>M | No |
ClinGen TOPMed |
|
|
CA8796985 rs761061993 |
605 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs754258741 CA8796987 |
607 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8796988 rs775574215 |
608 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202362563 CA401252767 |
610 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs865854323 CA294367292 |
612 | T>A | No |
ClinGen Ensembl |
|
|
CA294367294 rs202146720 |
613 | V>A | No |
ClinGen Ensembl |
|
|
CA294367296 rs750351809 |
614 | C>F | No |
ClinGen gnomAD |
|
|
rs571040732 CA8797064 |
615 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs746394939 CA8797066 |
615 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs887729993 CA294367303 |
617 | Q>E | No |
ClinGen Ensembl |
|
|
CA401252918 rs1598925586 |
618 | T>P | No |
ClinGen Ensembl |
|
|
rs775482795 CA8797068 |
619 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397266280 CA401252931 |
619 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA401252949 rs1395736448 |
620 | A>V | No |
ClinGen gnomAD |
|
|
CA8797070 rs369436673 |
626 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315682600 CA401253076 |
627 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 627 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8797074 rs369861947 COSM1386394 |
629 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8797072 rs377668539 |
629 | R>W | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1346097417 CA401253111 |
630 | K>* | No |
ClinGen TOPMed |
|
|
rs762843981 CA8797075 |
631 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1199579697 CA401253143 |
631 | Q>H | No |
ClinGen gnomAD |
|
|
rs762843981 CA401253131 |
631 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA401253167 rs1598925735 |
633 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 634 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223810873 CA401253903 |
636 | V>I | No |
ClinGen gnomAD |
|
|
rs774362429 CA8797098 |
637 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8797099 rs373080751 |
638 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8797100 rs549190533 |
638 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376065672 CA8797102 |
640 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1567808470 CA401254020 |
642 | L>V | No |
ClinGen Ensembl |
|
|
rs1409944958 CA401254035 |
643 | V>A | No |
ClinGen gnomAD |
|
|
CA401254028 rs1181744587 |
643 | V>M | No |
ClinGen gnomAD |
|
|
rs750820020 CA8797104 |
644 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA401254056 rs1458623590 |
645 | D>N | No |
ClinGen TOPMed |
|
|
rs1457379108 CA401254080 |
646 | L>P | No |
ClinGen gnomAD |
|
|
CA401254102 rs1469878474 |
648 | R>* | No |
ClinGen gnomAD |
|
|
rs373940356 CA8797105 |
649 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 652 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404962689 CA401254193 |
653 | P>L | No |
ClinGen gnomAD |
|
|
CA8797107 rs747548315 |
655 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8797108 rs755057465 |
656 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294368053 rs755057465 |
656 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401254260 rs1243322889 |
657 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA401254280 rs1490535318 |
658 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1294512911 CA401254274 |
658 | S>P | No |
ClinGen gnomAD |
|
|
CA8797109 rs781468738 |
659 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs146043414 CA8797111 |
660 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484185525 CA401254312 |
660 | G>V | No |
ClinGen gnomAD |
|
|
CA401254320 rs1177965500 |
661 | P>S | No |
ClinGen gnomAD |
|
|
CA401254390 rs1419474746 |
664 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1386970888 CA401254433 |
668 | A>P | No |
ClinGen gnomAD |
|
|
CA294368082 rs1003610082 |
668 | A>V | No |
ClinGen Ensembl |
|
|
CA401254451 rs1199676451 |
669 | S>L | No |
ClinGen Ensembl |
|
|
CA401254460 rs1167473723 |
670 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs570863648 CA8797115 |
670 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1298378832 CA401254483 |
671 | P>L | No |
ClinGen gnomAD |
|
|
rs759494713 CA8797117 |
672 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8797118 rs374705997 |
677 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1309328672 CA401254546 |
678 | C>F | No |
ClinGen gnomAD |
|
|
rs1205508930 CA401254551 |
679 | P>T | No |
ClinGen gnomAD |
|
|
rs1010707782 CA294368103 |
680 | C>R | No |
ClinGen Ensembl |
|
|
CA401254569 rs1181472931 |
681 | P>L | No |
ClinGen gnomAD |
|
|
CA401254565 rs1482823511 |
681 | P>S | No |
ClinGen gnomAD |
|
|
rs1244727971 CA401254574 |
682 | G>A | No |
ClinGen gnomAD |
|
|
rs1445212718 CA401254581 |
683 | S>F | No |
ClinGen gnomAD |
|
|
CA8797120 rs760316608 |
684 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760316608 CA294368106 |
684 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8797119 rs775023345 |
684 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8797122 rs753532399 |
686 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8797123 rs763185781 |
688 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1464874080 CA401254616 |
689 | P>L | No |
ClinGen gnomAD |
|
|
rs1383948718 CA401254637 |
693 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1383948718 CA401254638 |
693 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752088229 CA8797125 |
695 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401254684 rs1381019486 |
698 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 699 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8797129 rs370080392 |
699 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs955008055 CA294368126 |
700 | G>R | No |
ClinGen Ensembl |
|
|
CA401254708 rs1378158734 |
701 | L>P | No |
ClinGen gnomAD |
|
|
CA401254714 rs1461595373 |
702 | R>C | No |
ClinGen gnomAD |
|
|
CA8797131 rs749559253 |
705 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1291640284 CA401254756 |
706 | P>L | No |
ClinGen gnomAD |
|
|
CA294368132 rs908258794 |
709 | H>N | No |
ClinGen gnomAD |
|
|
rs908258794 CA294368134 |
709 | H>Y | No |
ClinGen gnomAD |
|
|
rs778730509 CA8797133 |
710 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573706900 CA8797135 |
711 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774968266 CA401254828 |
712 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8797137 rs774968266 |
712 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319170754 CA401254836 |
713 | A>G | No |
ClinGen gnomAD |
|
|
CA401254846 rs1347415020 |
714 | S>C | No |
ClinGen gnomAD |
|
|
rs1274382468 CA401254850 |
715 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768243990 CA8797139 |
718 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776097975 CA8797141 |
719 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776097975 CA8797140 |
719 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401254908 rs1187732896 |
721 | P>S | No |
ClinGen TOPMed |
|
|
CA401254929 rs1448708729 |
722 | S>N | No |
ClinGen gnomAD |
|
|
rs948340179 CA294368152 |
723 | G>S | No |
ClinGen gnomAD |
|
|
rs1429508455 CA401254960 |
725 | E>A | No |
ClinGen gnomAD |
1 associated diseases with Q8IU68
[MIM: 618231]: Epidermodysplasia verruciformis 2 (EV2)
A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV2 inheritance is autosomal recessive. {ECO:0000269|PubMed:12426567, ECO:0000269|PubMed:28646613}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV2 inheritance is autosomal recessive. {ECO:0000269|PubMed:12426567, ECO:0000269|PubMed:28646613}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q8IU68
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8IU68 | |||
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| mechanosensitive ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens in response to a mechanical stress. |
| protein sequestering activity | Binding to a protein to prevent it from interacting with other partners or to inhibit its localization to the area of the cell or complex where it is active. |
| tumor necrosis factor binding | Binding to tumor necrosis factor, a proinflammatory cytokine produced by monocytes and macrophages. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of protein binding | Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. |
| negative regulation of protein-containing complex assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. |
| regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
| regulation of extrinsic apoptotic signaling pathway via death domain receptors | Any process that modulates the frequency, rate or extent of extrinsic apoptotic signaling pathway via death domain receptors. |
| zinc ion homeostasis | Any process involved in the maintenance of an internal steady state of zinc ions within an organism or cell. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7Z402 | TMC7 | Transmembrane channel-like protein 7 | Homo sapiens (Human) | PR |
| Q6UXY8 | TMC5 | Transmembrane channel-like protein 5 | Homo sapiens (Human) | PR |
| Q8TDI8 | TMC1 | Transmembrane channel-like protein 1 | Homo sapiens (Human) | PR |
| Q7Z5M5 | TMC3 | Transmembrane channel-like protein 3 | Homo sapiens (Human) | PR |
| Q7TN58 | Tmc8 | Transmembrane channel-like protein 8 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLLPRSVSSE | RAPGVPEPEE | LWEAEMERLR | GSGTPVRGLP | YAMMDKRLIW | QLREPAGVQT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRWQRWQRRR | QTVERRLREA | AQRLARGLGL | WEGALYEIGG | LFGTGIRSYF | TFLRFLLLLN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLSLLLTASF | VLLPLVWLRP | PDPGPTLNLT | LQCPGSRQSP | PGVLRFHNQL | WHVLTGRAFT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NTYLFYGAYR | VGPESSSVYS | IRLAYLLSPL | ACLLLCFCGT | LRRMVKGLPQ | KTLLGQGYQA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PLSAKVFSSW | DFCIRVQEAA | TIKKHEISNE | FKVELEEGRR | FQLMQQQTRA | QTACRLLSYL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RVNVLNGLLV | VGAISAIFWA | TKYSQDNKEE | SLFLLLQYLP | PGVIALVNFL | GPLLFTFLVQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LENYPPNTEV | NLTLIWCVVL | KLASLGMFSV | SLGQTILCIG | RDKSSCESYG | YNVCDYQCWE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NSVGEELYKL | SIFNFLLTVA | FAFLVTLPRR | LLVDRFSGRF | WAWLEREEFL | VPKNVLDIVA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GQTVTWMGLF | YCPLLPLLNS | VFLFLTFYIK | KYTLLKNSRA | SSRPFRASSS | TFFFQLVLLL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GLLLAAVPLG | YVVSSIHSSW | DCGLFTNYSA | PWQVVPELVA | LGLPPIGQRA | LHYLGSHAFS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FPLLIMLSLV | LTVCVSQTQA | NARAIHRLRK | QLVWQVQEKW | HLVEDLSRLL | PEPGPSDSPG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PKYPASQASR | PQSFCPGCPC | PGSPGHQAPR | PGPSVVDAAG | LRSPCPGQHG | APASARRFRF |
| PSGAEL |