Q8IYW4
PR
Gene name |
ENTHD1 |
Protein name |
ENTH domain-containing protein 1 |
Names |
Epsin-2B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:150350 |
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 Q8IYW4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IYW4-F1 | Predicted | AlphaFoldDB |
464 variants for Q8IYW4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM373647 CA10245632 rs766301195 |
2 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA411968502 rs1486641381 |
5 | R>K | No |
ClinGen gnomAD |
|
|
CA411968501 rs1486641381 |
5 | R>T | No |
ClinGen gnomAD |
|
|
rs137865658 CA10245631 |
7 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs190709779 CA10245630 |
9 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769174429 CA10245629 |
12 | K>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1357977414 CA411968427 |
15 | S>L | No |
ClinGen gnomAD |
|
|
CA411968421 rs1294534537 |
16 | D>V | No |
ClinGen gnomAD |
|
|
rs1468601503 CA411968414 |
17 | A>G | No |
ClinGen TOPMed |
|
|
rs775941698 CA10245628 |
21 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245627 rs775941698 |
21 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772612938 CA10245626 |
22 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA10245625 rs188362012 |
24 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10245623 rs374987068 |
27 | N>D | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs374987068 CA324113279 |
27 | N>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA10245621 COSM726246 rs371281900 |
28 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10245620 rs756147284 |
30 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411968325 rs1437019894 |
31 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs367719406 CA10245619 |
31 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367719406 CA10245618 |
31 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs953632196 CA324113249 |
37 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs895739182 CA324113227 |
37 | M>R | No |
ClinGen Ensembl |
|
|
CA324113243 rs953632196 |
37 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411968274 rs1190158040 |
39 | D>E | No |
ClinGen gnomAD |
|
|
CA10245616 rs373822899 |
39 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411968279 rs1429982631 |
39 | D>N | No |
ClinGen gnomAD |
|
|
CA411968262 rs1489609554 |
41 | S>N | No |
ClinGen gnomAD |
|
|
rs973711600 CA324113197 |
43 | L>S | No |
ClinGen TOPMed |
|
|
CA10245614 rs766217324 |
46 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245612 rs750039068 |
48 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245613 rs758270518 |
48 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 49 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs903210208 COSM1714410 CA324113172 |
50 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA411968172 rs1300794317 |
54 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411968179 rs1308337837 |
54 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411968164 rs1403198702 |
55 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10245610 rs761202462 |
56 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10245611 COSM1641551 rs764977278 |
56 | M>V | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs776068348 CA10245609 |
58 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs763621750 CA10245608 |
64 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413258460 CA411968086 |
66 | K>N | No |
ClinGen gnomAD |
|
|
rs1463294299 CA411968067 COSM580230 |
69 | R>C | lung Variant assessed as Somatic; impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs774855734 CA10245606 |
69 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774855734 CA411968063 |
69 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430875303 CA411968051 |
71 | V>G | No |
ClinGen gnomAD |
|
|
CA411968053 rs1479172137 |
71 | V>M | No |
ClinGen gnomAD |
|
|
rs773275986 CA10245603 |
72 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451741479 CA411968035 |
73 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 74 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770103336 CA10245602 |
74 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA411968026 rs1245774529 COSM1632607 |
75 | L>F | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA411968025 rs1197955842 |
75 | L>H | No |
ClinGen gnomAD |
|
|
CA10245601 rs748406353 |
78 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA10245600 rs781382796 |
81 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1221987913 CA411967970 |
83 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411967954 rs1325912458 |
85 | G>V | No |
ClinGen gnomAD |
|
|
CA411967917 rs557485962 |
91 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs557485962 CA10245599 |
91 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10245598 rs746928602 |
98 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780104599 CA10245597 |
98 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1392931071 CA411967860 |
99 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs143087076 CA10245596 |
99 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA411967827 rs1467958939 |
104 | K>E | No |
ClinGen gnomAD |
|
|
CA324113063 rs774579721 |
104 | K>R | No |
ClinGen TOPMed |
|
|
rs764959975 CA10245593 |
105 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1569183106 CA920371168 |
105 | D>V | No |
ClinGen Ensembl |
|
|
CA411967821 rs1407812286 |
105 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411967799 rs1362587220 |
107 | Q>H | No |
ClinGen gnomAD |
|
|
CA411967802 rs1471952302 |
107 | Q>R | No |
ClinGen gnomAD |
|
|
CA10245592 rs17319801 VAR_037449 |
109 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1420203995 CA411967783 |
110 | D>H | No |
ClinGen gnomAD |
|
|
CA411967769 rs1207495725 |
111 | E>A | No |
ClinGen gnomAD |
|
|
CA10245591 rs753490587 |
112 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234561412 CA411967762 |
112 | A>V | No |
ClinGen TOPMed |
|
|
CA411967756 rs1202147639 |
113 | G>A | No |
ClinGen gnomAD |
|
|
CA10245590 rs763540095 |
114 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA324113057 rs933522462 |
114 | K>R | No |
ClinGen Ensembl |
|
|
CA10245589 rs760238874 |
115 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA411967732 rs1270781866 |
117 | G>C | No |
ClinGen TOPMed |
|
|
rs75296456 CA10245568 |
119 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411972064 rs1601650659 |
120 | I>L | No |
ClinGen Ensembl |
|
|
rs765682213 CA411972058 |
121 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765682213 CA10245565 |
121 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245566 rs187853484 |
121 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762333357 CA10245564 |
122 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245563 rs114884356 |
123 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 124 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs9611223 CA324082375 |
124 | S>Y | No |
ClinGen Ensembl |
|
|
rs769048398 CA10245562 |
125 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA411972019 rs1162160500 |
127 | V>D | No |
ClinGen gnomAD |
|
|
rs1426951210 CA411972015 |
128 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10245560 rs199666963 |
131 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 134 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772046450 CA10245559 |
134 | E>K | No |
ClinGen ExAC |
|
|
CA411971941 rs1304588665 |
139 | K>E | No |
ClinGen gnomAD |
|
|
rs146770098 CA10245554 |
141 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10245553 rs777386743 |
143 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA411971903 rs755714105 |
144 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245552 rs755714105 |
144 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245551 rs752324015 |
145 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411971893 rs143562876 |
146 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10245549 rs143562876 |
146 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780688878 CA10245550 |
146 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432210919 CA411971882 |
148 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA411971877 rs1271524853 |
149 | Q>* | No |
ClinGen gnomAD |
|
|
CA10245548 rs750935622 |
149 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324082312 rs1000774344 |
150 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs762245558 CA10245547 |
150 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762245558 CA10245546 |
150 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411971850 rs1189410676 |
153 | H>Q | No |
ClinGen Ensembl |
|
|
CA10245545 rs754201914 |
155 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371013997 CA10245543 |
156 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10245542 rs140041075 |
159 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1168645684 CA411971790 |
162 | L>R | No |
ClinGen gnomAD |
|
|
rs767624169 CA324082289 |
165 | S>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1251220 rs767624169 CA10245541 |
165 | S>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA411971753 rs1346822813 |
168 | L>R | No |
ClinGen TOPMed |
|
|
CA10245538 rs116693852 |
169 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770907654 CA10245537 |
170 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770907654 CA411971746 |
170 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749246538 CA10245536 |
170 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245533 rs150632651 |
171 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485074006 CA411971732 |
172 | T>S | No |
ClinGen gnomAD |
|
|
CA411971724 rs1569172275 |
174 | A>T | No |
ClinGen Ensembl |
|
|
CA10245532 rs780772426 |
175 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs780772426 CA324082237 |
175 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA411971709 rs1322381701 |
176 | T>I | No |
ClinGen gnomAD |
|
|
COSM1566444 rs148548476 CA10245530 |
177 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs377489337 CA324082173 |
178 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10245527 rs757795141 |
186 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569172217 CA411971646 |
186 | Y>H | No |
ClinGen Ensembl |
|
|
CA10245524 rs756490695 |
188 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 191 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10245523 rs752962089 |
192 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA324082112 rs113681710 CA10245521 |
193 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759642965 CA10245520 |
195 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10245519 rs774369968 |
196 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs766476782 CA411971573 |
197 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375243563 CA10245517 |
197 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766476782 CA10245518 |
197 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231484586 CA411971568 |
198 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1317605634 CA411968987 |
200 | V>A | No |
ClinGen gnomAD |
|
|
CA10245497 rs766390023 |
203 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10245495 rs114100360 |
205 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411968957 rs763080060 |
205 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432923277 CA411968932 |
208 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA411968930 rs1432923277 |
208 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10245493 rs534656585 |
211 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10245492 rs534656585 |
211 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768501802 CA411968904 |
212 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768501802 CA10245491 |
212 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245490 rs760345892 |
213 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs143255336 CA10245489 |
214 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324067297 rs143255336 |
214 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1601628874 CA411968873 |
217 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 219 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411968853 rs1165217833 |
220 | M>V | No |
ClinGen gnomAD |
|
|
rs933111610 CA324067284 |
221 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1386831142 CA411968829 |
223 | Q>R | No |
ClinGen TOPMed |
|
|
rs1486528352 CA411968809 |
226 | L>F | No |
ClinGen gnomAD |
|
|
CA10245486 rs778403003 |
227 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1264540704 CA411968803 |
227 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10245485 rs770151688 |
228 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324067274 rs1038706344 |
228 | L>V | No |
ClinGen TOPMed |
|
|
CA411968775 rs1294463424 |
231 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781349511 CA10245483 |
233 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA411968736 rs1293635252 |
235 | S>* | No |
ClinGen gnomAD |
|
|
rs770483413 CA10245464 |
238 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs770483413 CA411967715 |
238 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10245463 rs115492335 |
239 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1395592965 CA411967710 |
239 | L>V | No |
ClinGen gnomAD |
|
|
CA411967705 rs1463245422 |
240 | M>L | No |
ClinGen gnomAD |
|
|
rs769007786 CA10245462 |
244 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA411967674 rs1334316011 |
244 | D>G | No |
ClinGen TOPMed |
|
|
rs1470647878 CA411967675 |
244 | D>Y | No |
ClinGen TOPMed |
|
|
CA324059587 rs925038789 |
245 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs747420037 CA10245460 |
246 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10245459 rs780415643 |
247 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs142690162 CA324059576 |
251 | L>S | No |
ClinGen ESP TOPMed |
|
|
COSM1535450 rs746091066 CA10245457 |
253 | A>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1404832061 CA411967621 |
253 | A>T | No |
ClinGen TOPMed |
|
|
rs957032500 CA324059573 |
255 | P>S | No |
ClinGen Ensembl |
|
|
CA411967594 rs1179290591 |
257 | S>Y | No |
ClinGen gnomAD |
|
|
rs1458410389 CA411967592 |
258 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778800311 CA10245456 |
260 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA10245454 rs753713322 |
261 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755953008 CA10245452 |
262 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs545116511 CA10245451 |
263 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10245449 CA411967546 rs759198692 |
265 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245447 rs138393426 |
269 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774070537 CA10245448 |
269 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774070537 CA411967525 |
269 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245445 rs776974725 |
270 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA411967519 rs1335597179 |
270 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs762593608 CA10245446 |
270 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769100029 CA10245444 |
271 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA411967505 rs1362530215 |
272 | C>Y | No |
ClinGen gnomAD |
|
|
CA411967494 rs1440643686 |
273 | N>K | No |
ClinGen gnomAD |
|
|
CA411967499 rs1161769102 |
273 | N>Y | No |
ClinGen gnomAD |
|
|
rs577847629 CA10245442 |
275 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1257013551 CA411967477 |
276 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1257013551 CA411967478 |
276 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1462816847 CA411967481 |
276 | G>S | No |
ClinGen gnomAD |
|
|
CA411967476 rs1257013551 |
276 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA324059535 rs964217014 |
277 | A>T | No |
ClinGen Ensembl |
|
|
rs926691362 CA324024767 |
280 | V>M | No |
ClinGen Ensembl |
|
|
rs1299485844 CA411967428 |
281 | P>L | No |
ClinGen gnomAD |
|
|
CA411967429 rs1299485844 |
281 | P>R | No |
ClinGen gnomAD |
|
|
CA10245415 rs771137436 |
281 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs749504812 CA10245414 |
283 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 283 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10245412 rs770008485 |
286 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1167488563 CA639684624 |
287 | S>K | No |
ClinGen gnomAD |
|
|
rs781349966 CA10245410 |
287 | S>N | No |
ClinGen ExAC |
|
|
CA324024729 rs757967632 |
289 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs111738363 CA10245409 |
292 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM140308 CA10245408 rs751422820 |
293 | D>N | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1471990756 CA411967353 |
293 | D>V | No |
ClinGen TOPMed |
|
|
CA324024725 rs140781685 |
297 | D>Y | No |
ClinGen ESP TOPMed |
|
|
rs779742222 CA10245407 |
298 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 302 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411967285 rs757998756 |
303 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA10245406 rs757998756 |
303 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs180779267 CA10245404 |
307 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10245402 rs753169281 |
311 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA411967222 rs1279589314 |
313 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 314 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411967202 rs1175162536 |
315 | T>I | No |
ClinGen TOPMed |
|
|
rs768059180 CA10245401 |
317 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs376750548 CA10245400 |
319 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10245398 rs771204559 |
321 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10245397 rs763177948 |
325 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573118423 CA10245396 |
329 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411967101 rs1469306193 |
331 | I>T | No |
ClinGen gnomAD |
|
|
CA324024671 rs752556653 |
331 | I>V | No |
ClinGen gnomAD |
|
|
rs1428527416 CA411967086 |
333 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 335 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10245394 rs112903488 |
336 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10245393 CA411967065 rs112903488 |
336 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1189475559 CA411967067 |
336 | W>S | No |
ClinGen gnomAD |
|
|
rs1247119799 CA411967063 |
337 | S>P | No |
ClinGen gnomAD |
|
|
rs768595560 CA10245392 |
340 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1456195323 COSM445022 CA411967033 |
341 | E>* | Variant assessed as Somatic; 4.622e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs945123402 CA411967029 |
341 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10245391 rs746922235 |
341 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA411967026 rs1347477162 |
342 | F>I | No |
ClinGen TOPMed |
|
|
CA411967007 rs1260700693 |
344 | S>R | No |
ClinGen gnomAD |
|
|
rs1221486174 CA411967002 |
345 | P>H | No |
ClinGen gnomAD |
|
|
CA10245388 rs145446901 |
346 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324024648 rs200509375 |
348 | R>G | No |
ClinGen ESP gnomAD |
|
|
rs1487983688 CA411966975 |
349 | V>A | No |
ClinGen Ensembl |
|
|
rs1214498229 CA411966979 |
349 | V>I | No |
ClinGen Ensembl |
|
|
rs1404080099 CA411966961 |
351 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs368458883 CA10245386 |
352 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10245385 rs753295566 |
353 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775824919 CA324024631 |
353 | D>N | No |
ClinGen Ensembl |
|
|
rs536294386 CA10245384 |
354 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs752021273 CA10245382 |
355 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs766753464 CA10245381 |
356 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 364 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10245377 rs770191722 |
365 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10245375 rs762151471 |
373 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs370825021 CA10245374 |
376 | R>* | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1310435397 CA411966797 |
376 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1310435397 CA411966799 |
376 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1383587255 CA411966792 |
377 | V>A | No |
ClinGen gnomAD |
|
|
rs1245588181 CA411966796 |
377 | V>M | No |
ClinGen gnomAD |
|
|
rs199789187 CA10245372 |
379 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10245373 rs768628989 |
379 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1172714346 CA411966772 |
380 | I>M | No |
ClinGen gnomAD |
|
|
rs771869181 CA10245370 |
380 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs771869181 CA10245371 |
380 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10245369 rs140354610 |
381 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1017365274 CA324024502 |
384 | K>Q | No |
ClinGen TOPMed |
|
|
rs756864673 CA10245367 |
385 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs188801864 CA10245366 |
385 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774359446 CA411966736 |
386 | Y>C | No |
ClinGen gnomAD |
|
|
rs774359446 CA324024496 |
386 | Y>F | No |
ClinGen gnomAD |
|
|
CA411966731 rs1304820272 |
387 | Q>K | No |
ClinGen TOPMed |
|
|
rs140134923 CA10245365 |
389 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10245364 rs755639094 |
392 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1051567632 CA324024482 |
394 | I>L | No |
ClinGen Ensembl |
|
|
CA10245363 rs752105884 |
396 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758816646 CA10245361 |
397 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs766839829 CA10245362 |
397 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324024440 rs913654978 |
400 | I>N | No |
ClinGen Ensembl |
|
|
CA324024438 rs763403664 |
401 | L>F | No |
ClinGen Ensembl |
|
|
CA10245360 rs116405776 |
402 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411966614 rs1287244294 |
404 | T>N | No |
ClinGen gnomAD |
|
|
CA411966610 rs1245654881 |
405 | T>A | No |
ClinGen gnomAD |
|
|
CA324024414 rs547267116 |
406 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs926658842 CA324024409 |
406 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs547267116 CA10245355 |
406 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411966587 rs1424978464 |
407 | V>G | No |
ClinGen gnomAD |
|
|
rs777046791 CA10245354 |
407 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs868164759 CA324008897 |
408 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411966547 rs1431928533 |
414 | A>P | No |
ClinGen gnomAD |
|
|
rs759413013 CA10245311 |
415 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 418 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 418 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 419 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374392116 CA10245310 |
420 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752651560 CA411966502 |
421 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs752651560 CA10245309 |
421 | S>Y | No |
ClinGen ExAC |
|
|
CA324008873 rs115302874 |
422 | M>T | No |
ClinGen 1000Genomes |
|
|
rs762780840 CA10245308 |
422 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411966487 rs1256340512 |
424 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 424 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs115673469 CA10245307 |
427 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs918254917 CA324008844 |
428 | A>G | No |
ClinGen Ensembl |
|
|
CA411966452 rs1232506471 |
429 | S>F | No |
ClinGen gnomAD |
|
|
rs769284855 CA10245306 |
430 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 431 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388858310 CA411966441 |
431 | E>G | No |
ClinGen TOPMed |
|
|
CA411966414 rs1303180014 |
435 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10245305 rs547486923 |
437 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411966396 rs1375713641 |
438 | S>A | No |
ClinGen gnomAD |
|
|
CA411966388 rs1328787325 |
439 | P>L | No |
ClinGen gnomAD |
|
|
rs529502860 CA324008822 |
439 | P>S | No |
ClinGen TOPMed |
|
|
rs561938047 CA10245304 |
440 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868771517 CA411966372 |
442 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA411966374 rs1334172683 |
442 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA324008784 rs868771517 |
442 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10245302 rs116668695 |
443 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10245301 rs532011940 |
444 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411966366 rs1379838269 |
444 | P>T | No |
ClinGen gnomAD |
|
|
CA411966357 rs1268544890 |
445 | S>F | No |
ClinGen TOPMed |
|
|
CA10245300 rs757672725 |
447 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs143498985 CA10245299 |
448 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA324008737 rs370409541 |
453 | Q>P | No |
ClinGen Ensembl |
|
|
rs1198762570 CA411966295 |
454 | L>F | No |
ClinGen gnomAD |
|
|
rs1482251138 CA411966282 |
456 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 457 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10245295 rs767573970 |
457 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245293 rs751467701 |
458 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs960585734 CA324008682 |
459 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs149999735 CA10245290 |
462 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10245289 rs762974291 |
462 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs772844860 CA10245288 |
463 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411966199 rs1440583975 |
469 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA324008647 rs751463026 |
469 | H>Y | No |
ClinGen Ensembl |
|
|
rs766276952 CA324008639 |
471 | S>C | No |
ClinGen Ensembl |
|
|
rs761355836 CA10245286 |
473 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10245285 rs776491903 |
476 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1032110332 CA324008631 |
476 | G>S | No |
ClinGen Ensembl |
|
|
rs568312009 CA324008617 |
480 | S>C | No |
ClinGen gnomAD |
|
|
rs980493689 CA411966123 |
481 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs768245834 CA10245281 |
481 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245280 rs746563037 |
483 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411966106 rs1288987737 |
484 | E>G | No |
ClinGen TOPMed |
|
|
CA10245279 rs376116655 |
484 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411966097 rs1352556932 |
485 | N>S | No |
ClinGen TOPMed |
|
|
rs771522264 CA10245278 |
486 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10245277 rs200214610 |
488 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 488 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10245276 rs139301765 |
489 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752857604 CA10245274 |
491 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1316590748 CA411966057 |
492 | G>R | No |
ClinGen TOPMed |
|
|
rs369391771 CA10245273 |
494 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10245272 rs755031768 |
495 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1484937461 CA411966037 |
495 | P>L | No |
ClinGen TOPMed |
|
|
rs751594535 CA411966035 |
496 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs751594535 CA10245271 |
496 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1390300214 CA411966032 |
496 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1031933339 CA324008471 |
498 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs766480780 CA10245270 |
498 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1369173240 CA411965995 |
502 | K>E | No |
ClinGen gnomAD |
|
|
CA324008459 rs999477775 |
502 | K>I | No |
ClinGen TOPMed |
|
|
rs1246304176 CA411965969 |
505 | I>R | No |
ClinGen gnomAD |
|
|
rs762736817 CA10245269 |
505 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA411965967 rs1477470428 |
506 | S>R | No |
ClinGen gnomAD |
|
|
rs764933165 CA10245267 |
507 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546690722 CA10245268 |
507 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357992472 CA411965937 |
510 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1357992472 CA411965936 |
510 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10245264 rs201138603 |
511 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760433786 CA10245263 |
512 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs775073970 CA10245262 |
514 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 515 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569120171 CA411965900 |
515 | E>G | No |
ClinGen Ensembl |
|
|
rs1569120171 CA411965899 |
515 | E>V | No |
ClinGen Ensembl |
|
|
CA411965875 rs1372406074 |
519 | Q>E | No |
ClinGen gnomAD |
|
|
CA411965864 rs1337512254 |
520 | N>I | No |
ClinGen TOPMed |
|
|
rs1330947654 CA411965853 |
522 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411965854 rs1330947654 |
522 | D>N | No |
ClinGen gnomAD |
|
|
CA10245260 rs771623941 COSM726250 |
523 | Q>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA324008404 rs1051981741 |
523 | Q>R | No |
ClinGen TOPMed |
|
|
rs749745987 CA10245259 |
528 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1051303617 CA324008391 |
529 | C>R | No |
ClinGen TOPMed |
|
|
rs867345494 CA324008386 |
530 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 533 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411965774 rs1170084496 |
534 | S>P | No |
ClinGen gnomAD |
|
|
rs371676480 CA10245257 |
535 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411965749 COSM1535452 rs1601559177 |
537 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 537 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs1282814398 CA411965747 |
538 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA10245256 rs748596978 |
538 | F>Y | No |
ClinGen ExAC |
|
|
CA10245255 rs781561920 |
539 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA411965729 rs1245953645 |
540 | Q>H | No |
ClinGen gnomAD |
|
|
CA10245254 rs755156116 |
541 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs539399665 CA324008362 |
542 | P>R | No |
ClinGen 1000Genomes |
|
|
CA411965708 rs1452996747 |
544 | A>T | No |
ClinGen gnomAD |
|
|
COSM187261 CA411965696 rs1267543092 |
545 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs114948690 CA10245253 |
548 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs553788189 CA10245252 |
549 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758568561 CA10245251 |
549 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10245250 rs750292223 |
549 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1714407 CA324008286 rs867238125 |
554 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1569120020 CA411965627 |
556 | K>T | No |
ClinGen Ensembl |
|
|
CA10245248 rs200294131 |
557 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA324008277 COSM3379362 rs753644902 |
557 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10245247 rs753644902 |
557 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs144803190 COSM4137474 CA10245246 |
558 | A>V | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1402619975 CA411965610 |
559 | I>T | No |
ClinGen gnomAD |
|
|
CA411965607 rs1410497060 COSM171891 |
560 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10245243 rs766932008 |
561 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA411965598 rs1569119980 |
561 | R>I | No |
ClinGen Ensembl |
|
|
rs140956590 CA10245242 |
561 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868453880 CA324008234 |
564 | E>K | No |
ClinGen Ensembl |
|
|
CA10245240 rs770289278 |
565 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA411965570 rs1398487584 |
565 | D>V | No |
ClinGen TOPMed |
|
|
rs376701597 CA324008208 |
566 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1415750895 CA411965554 |
568 | T>A | No |
ClinGen gnomAD |
|
|
rs1044205938 CA324008189 |
568 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM726251 rs1204556425 CA411965540 |
570 | I>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1239503914 CA411965542 |
570 | I>V | No |
ClinGen gnomAD |
|
|
rs1277049249 CA411965533 |
571 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411965529 rs1569119917 |
572 | E>Q | No |
ClinGen Ensembl |
|
|
rs769026309 CA10245237 |
573 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769026309 CA411965521 |
573 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 573 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372712499 CA324008179 |
575 | V>I | No |
ClinGen ESP |
|
|
rs1369097915 CA411965498 |
576 | I>T | No |
ClinGen TOPMed |
|
|
CA324008178 rs537586797 |
577 | N>D | No |
ClinGen Ensembl |
|
|
rs564153483 CA324008175 |
577 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 578 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA324008162 rs747223817 |
580 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA324008173 rs368618977 |
580 | L>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10245235 rs780359859 |
581 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411965457 rs1342012340 |
582 | S>N | No |
ClinGen TOPMed |
|
|
CA10245234 rs758383045 |
583 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA324008138 rs917094545 |
583 | M>T | No |
ClinGen Ensembl |
|
|
rs745909257 CA10245233 |
587 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs778890071 CA10245232 |
588 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1332194755 CA411965412 |
589 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1332194755 CA411965413 |
589 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs568491500 CA10245231 |
593 | S>P | No |
ClinGen 1000Genomes ExAC |
|
|
rs550337028 CA324008113 |
594 | S>P | No |
ClinGen 1000Genomes |
|
|
rs1437646434 CA411965359 |
597 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10245230 rs753840828 |
598 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193204701 CA411965350 |
598 | Q>R | No |
ClinGen TOPMed |
|
|
rs763967798 CA10245229 |
600 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA411965326 rs756040876 |
602 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10245228 rs756040876 |
602 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474177948 CA411965319 |
603 | S>N | No |
ClinGen TOPMed |
|
|
rs1472137624 CA411965315 |
603 | S>R | No |
ClinGen gnomAD |
|
|
rs767250352 CA10245226 |
605 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs9611217 CA324008077 |
607 | I>M | No |
ClinGen Ensembl |
No associated diseases with Q8IYW4
1 regional properties for Q8IYW4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ENTH domain | 9 - 141 | IPR013809 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| clathrin vesicle coat | A clathrin coat found on a vesicle. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| clathrin binding | Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q12518 | ENT1 | Epsin-1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q07872 | ENT4 | Epsin-4 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8TBZ2 | MYCBPAP | MYCBP-associated protein | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFRRQVKNF | VKNYSDAEIK | VREATSNDPW | GPSSSLMLDI | SDLTFNTISL | SEIMNMLWHR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LNDHGKNWRH | VYKSLTLMDY | LIKNGSKKVI | QHCREGFCNL | QTLKDFQHID | EAGKDQGYYI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| REKSKQVITL | LMDEPLLCKE | REVACRTRQR | TSHSILFSKR | QLGSSNSLTA | CTSAPTPDIS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ASEKKYKLPK | FGRLHNKRNV | CKAGLKQEHC | QDVHLPTETM | LSQETLPLKI | HGWKSTEDLM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TFLDDDPELP | LLATPPSIVS | PITCLSEAEE | VCNLSGADAV | PTLSENSPSG | QRDVSLDKRS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DGIFTNTVTE | NLLETPLEKQ | SAAEGLKTLT | ILPACWSSKE | EFISPDLRVS | KSDSTFHNQA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SVETLCLSPS | FKIFDRVKEI | VINKAYQKPA | QSSIQMDDKI | LKTTTRVSTA | SEGASSFSPL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SMSSPDLASP | EKSAHLLSPI | LAGPSFWTLS | HQQLSSTSFK | DEDKTAKLHH | SFASRGPVSS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DVEENDSLNL | LGILPNNSDS | AKKNISHISS | SHWGEFSTQN | VDQFIPLSCS | GFQSTKDFPQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EPEAKNSISV | LLREVKRAIA | RLHEDLSTVI | QELNVINNIL | MSMSLNSSQI | SQSSQVPQSS |
| EGSSDQI |