Q8ND24
Gene name |
RNF214 |
Protein name |
RING finger protein 214 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:257160 |
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 Q8ND24
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q8ND24-F1 | Predicted | AlphaFoldDB |
499 variants for Q8ND24
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs761403728 CA6293288 |
3 | A>T | No |
ClinGen ExAC gnomAD |
|
CA6293289 rs764897950 |
5 | E>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 6 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6293290 rs147353011 |
6 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6293292 rs766088933 |
7 | A>V | No |
ClinGen ExAC gnomAD |
|
CA229375131 rs935515965 |
8 | G>D | No |
ClinGen TOPMed |
|
CA229375126 rs903624605 |
8 | G>R | No |
ClinGen TOPMed |
|
CA229375133 rs1000643333 |
9 | V>G | No |
ClinGen TOPMed |
|
CA6293294 rs755386792 |
10 | V>L | No |
ClinGen ExAC gnomAD |
|
CA229375140 rs895608798 |
11 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA6293296 rs748724641 |
12 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6293298 rs191545890 |
14 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA382755394 rs1242208108 |
15 | S>C | No |
ClinGen gnomAD |
|
CA382755388 rs1242208108 |
15 | S>R | No |
ClinGen gnomAD |
|
TCGA novel | 15 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA382755412 rs139503238 |
16 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA382755415 rs1289020102 |
16 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA382755416 rs1289020102 |
16 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA6293299 rs139503238 |
16 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774643831 CA6293301 |
17 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771091142 CA6293300 |
17 | P>S | No |
ClinGen ExAC gnomAD |
|
rs369245505 CA382755526 |
22 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6293303 rs768560943 |
22 | L>I | No |
ClinGen ExAC gnomAD |
|
CA229375179 rs184163025 |
24 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
CA229375185 rs1002009202 |
25 | S>T | No |
ClinGen Ensembl |
|
rs761891854 CA6293305 |
27 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6293306 rs764809941 |
28 | D>E | No |
ClinGen ExAC gnomAD |
|
rs1158252620 CA382755667 |
29 | E>G | No |
ClinGen gnomAD |
|
CA6293307 rs373008488 COSM1297674 |
29 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs527693273 CA382755688 |
30 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs527693273 CA6293308 |
30 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1158895987 CA382755746 |
33 | D>G | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 34 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs371085366 CA229375199 |
36 | S>T | No |
ClinGen ESP TOPMed |
|
CA382756512 rs1447589083 |
38 | K>E | No |
ClinGen TOPMed |
|
CA6293333 rs754406898 |
38 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757268979 CA6293334 |
39 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 40 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA382756530 rs1272554428 |
40 | S>F | No |
ClinGen gnomAD |
|
rs370273925 CA6293335 |
41 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1177649799 CA382756537 |
42 | Q>E | No |
ClinGen TOPMed gnomAD |
|
CA6293336 rs750579748 |
42 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs533703575 CA6293338 |
44 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs533703575 CA382756554 |
44 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 45 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6293339 rs199853953 |
47 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA229380501 rs931500708 |
49 | L>R | No |
ClinGen Ensembl |
|
CA382756598 rs749309119 |
51 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6293343 rs749309119 |
51 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs367876300 CA6293344 |
52 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA229380510 rs367876300 |
52 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6293345 rs773867251 |
53 | S>G | No |
ClinGen ExAC gnomAD |
|
CA6293347 rs771651532 |
55 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA382756627 rs1565327866 |
55 | Q>P | No |
ClinGen Ensembl |
|
rs775125776 CA6293348 |
56 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761021575 CA6293349 |
57 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1217432560 CA382756644 |
58 | T>A | No |
ClinGen TOPMed |
|
rs886163268 CA229380532 |
59 | K>E | No |
ClinGen TOPMed |
|
CA229380535 rs1004644325 |
59 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA382756670 rs1264758268 |
60 | E>D | No |
ClinGen gnomAD |
|
CA382756668 rs1205338159 |
60 | E>V | No |
ClinGen gnomAD |
|
CA6293351 rs754320801 |
61 | N>H | No |
ClinGen ExAC gnomAD |
|
CA6293352 rs181426687 |
61 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs765695500 CA6293353 |
64 | N>S | No |
ClinGen ExAC gnomAD |
|
CA6293354 rs750468332 |
65 | V>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 66 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 67 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs780358782 CA6293356 |
68 | E>V | No |
ClinGen ExAC gnomAD |
|
CA382756830 rs1340445531 |
72 | Q>* | No |
ClinGen TOPMed |
|
CA6293357 rs141645554 |
72 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA382756864 rs1160364445 |
74 | P>L | No |
ClinGen gnomAD |
|
rs755963172 CA6293358 |
74 | P>S | No |
ClinGen ExAC |
|
rs1347546758 CA382756873 |
75 | G>D | No |
ClinGen TOPMed |
|
CA382756903 rs1460324073 |
78 | A>T | No |
ClinGen gnomAD |
|
rs1395591668 CA382756919 |
79 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA6293360 rs749153248 |
79 | G>S | No |
ClinGen ExAC gnomAD |
|
CA6293361 rs757165920 |
81 | T>I | No |
ClinGen ExAC gnomAD |
|
rs757165920 CA382756952 |
81 | T>S | No |
ClinGen ExAC gnomAD |
|
CA382756973 rs1287284852 |
83 | A>S | No |
ClinGen gnomAD |
|
rs368615483 CA229380565 |
84 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
rs368615483 CA382756989 |
84 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
rs1312069501 CA382756999 |
85 | H>R | No |
ClinGen gnomAD |
|
CA6293363 rs745306439 |
86 | Q>* | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 86 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA229380568 rs760277326 |
86 | Q>R | No |
ClinGen gnomAD |
|
TCGA novel | 87 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA229380570 rs201200081 |
91 | E>G | No |
ClinGen 1000Genomes |
|
rs1180982631 CA382757103 |
93 | L>F | No |
ClinGen gnomAD |
|
rs1001083292 CA229380571 |
93 | L>S | No |
ClinGen Ensembl |
|
rs1475905759 CA382757137 |
96 | T>A | No |
ClinGen gnomAD |
|
rs746711264 CA6293367 |
97 | A>S | No |
ClinGen ExAC gnomAD |
|
rs768977285 CA6293368 |
97 | A>V | No |
ClinGen ExAC gnomAD |
|
CA229380586 rs777014311 |
98 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777014311 CA229380589 |
98 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777014311 CA6293369 |
98 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382757174 rs1431743052 |
100 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA382757173 rs1431743052 |
100 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA6293372 rs773598907 |
101 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382757208 rs1328347512 |
103 | S>N | No |
ClinGen gnomAD |
|
CA382757200 rs1293787110 |
103 | S>R | No |
ClinGen gnomAD |
|
rs1317615093 CA382757233 |
105 | S>F | No |
ClinGen TOPMed |
|
rs1591816864 CA382757269 |
109 | L>V | No |
ClinGen Ensembl |
|
rs904449538 CA229380604 |
111 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA229380612 rs998744503 |
114 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs1277766877 CA382757323 |
114 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs1168169085 CA382757332 |
115 | T>A | No |
ClinGen TOPMed |
|
rs1188084502 CA382757358 |
117 | G>V | No |
ClinGen gnomAD |
|
rs1424019100 CA382757375 |
119 | E>* | No |
ClinGen TOPMed |
|
CA382757376 rs1591816880 |
119 | E>G | No |
ClinGen Ensembl |
|
CA382757392 rs1470057077 |
121 | D>G | No |
ClinGen gnomAD |
|
TCGA novel | 121 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1470057077 CA382757391 |
121 | D>V | No |
ClinGen gnomAD |
|
CA6293378 rs201091154 |
122 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6293380 rs371176502 |
123 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6293381 rs745849348 CA382757405 |
123 | S>R | No |
ClinGen ExAC gnomAD |
|
CA6293382 rs776400901 |
124 | L>I | No |
ClinGen ExAC gnomAD |
|
CA6293384 rs374761866 |
125 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6293386 rs542552815 |
125 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs542552815 CA6293385 |
125 | R>Q | Variant assessed as Somatic; 9.279e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs374761866 CA6293383 |
125 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs369201312 CA6293388 |
127 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6293387 rs369201312 |
127 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs773758801 CA6293389 |
127 | S>I | No |
ClinGen ExAC gnomAD |
|
CA6293390 rs763607630 |
129 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs1373716706 CA382757435 |
129 | H>R | No |
ClinGen gnomAD |
|
rs1211221981 CA382757456 |
133 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs766539493 CA6293392 |
133 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3808441 rs1211221981 CA382757457 |
133 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA6293393 rs774536692 |
134 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767708238 CA6293395 |
135 | L>F | No |
ClinGen ExAC gnomAD |
|
rs767708238 CA382757465 |
135 | L>V | No |
ClinGen ExAC gnomAD |
|
CA229380696 rs575931748 |
139 | C>Y | No |
ClinGen 1000Genomes gnomAD |
|
CA382757497 rs1455734442 |
140 | H>N | No |
ClinGen gnomAD |
|
CA6293397 rs757059663 |
141 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA229380699 rs1023088666 |
141 | T>P | No |
ClinGen TOPMed |
|
rs199938335 CA6293398 |
143 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA382757522 rs1408291421 |
143 | Q>H | No |
ClinGen gnomAD |
|
rs750342672 CA6293399 |
145 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382757548 rs1435724952 |
148 | N>H | No |
ClinGen gnomAD |
|
TCGA novel | 149 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA229380706 rs984092109 |
150 | S>F | No |
ClinGen TOPMed |
|
CA382757626 rs758291355 |
155 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6293400 rs758291355 |
155 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382757653 rs1299636078 |
157 | T>I | No |
ClinGen TOPMed |
|
rs779988145 CA6293401 |
158 | S>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 161 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1296428803 CA382757697 |
162 | E>G | No |
ClinGen gnomAD |
|
CA382757706 rs1358492762 |
163 | G>D | No |
ClinGen TOPMed |
|
TCGA novel | 165 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA382757726 rs1273142446 |
165 | R>T | No |
ClinGen TOPMed gnomAD |
|
rs1178112715 CA382757721 |
165 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA6293405 rs747815022 |
166 | D>E | No |
ClinGen ExAC gnomAD |
|
CA6293404 rs780895277 |
166 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754490428 CA6293403 |
166 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1470109203 CA382757742 |
167 | T>A | No |
ClinGen gnomAD |
|
rs770176452 CA6293406 |
167 | T>I | No |
ClinGen ExAC gnomAD |
|
rs770176452 CA6293407 |
167 | T>K | No |
ClinGen ExAC gnomAD |
|
rs771501968 CA6293409 |
172 | R>* | No |
ClinGen ExAC gnomAD |
|
CA6293410 rs186490039 |
172 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6293411 rs759681232 |
173 | P>S | No |
ClinGen ExAC gnomAD |
|
CA6293412 rs772099443 |
174 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1565328237 CA382757809 |
174 | V>I | No |
ClinGen Ensembl |
|
rs760846137 CA6293414 |
176 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764407836 CA6293415 |
177 | P>L | No |
ClinGen ExAC gnomAD |
|
CA6293416 rs750169907 |
178 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750169907 CA382757837 |
178 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762750374 CA6293417 |
179 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1251565840 CA382757862 |
182 | E>G | No |
ClinGen TOPMed |
|
rs1355117776 CA382757871 |
183 | G>E | No |
ClinGen gnomAD |
|
TCGA novel | 185 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs757722784 CA6293418 |
185 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382757887 rs1271840785 |
186 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs1591817025 CA382757883 |
186 | V>L | No |
ClinGen Ensembl |
|
CA6293419 rs373179752 |
187 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
CA382757899 rs1214740660 |
188 | Q>R | No |
ClinGen gnomAD |
|
CA6293420 rs754499333 |
189 | D>G | No |
ClinGen ExAC gnomAD |
|
CA382757903 rs1261522483 |
189 | D>N | No |
ClinGen gnomAD |
|
rs1255788661 CA382757918 |
191 | D>N | No |
ClinGen TOPMed |
|
rs752369383 CA6293422 |
193 | D>H | No |
ClinGen ExAC gnomAD |
|
rs752369383 CA382757934 |
193 | D>N | No |
ClinGen ExAC gnomAD |
|
CA382757953 rs1321063533 |
195 | S>F | No |
ClinGen gnomAD |
|
CA6293423 rs755669931 |
195 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA229380800 rs777508145 |
196 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777508145 CA6293425 |
196 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA229380812 rs934212007 |
197 | L>V | No |
ClinGen TOPMed |
|
CA382757962 rs1238841104 |
198 | K>Q | No |
ClinGen TOPMed |
|
rs1157754621 CA382757992 |
202 | N>H | No |
ClinGen gnomAD |
|
rs377448273 CA6293427 |
202 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1383553513 CA382757998 |
203 | I>F | No |
ClinGen gnomAD |
|
rs779560930 CA6293428 |
205 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746419775 CA6293429 |
206 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs772171591 CA6293430 |
206 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA6293459 rs770688585 |
211 | T>A | No |
ClinGen ExAC gnomAD |
|
CA229381237 rs527819924 |
212 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs1480695659 CA382758076 |
213 | D>G | No |
ClinGen Ensembl |
|
rs377618394 CA6293461 |
214 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6293462 rs767287359 |
216 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1591817506 CA382758098 |
217 | N>H | No |
ClinGen Ensembl |
|
rs370577887 CA229381264 |
219 | D>E | No |
ClinGen ESP TOPMed |
|
rs760103105 CA6293464 |
219 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382758112 rs760103105 |
219 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6293465 rs763740560 |
219 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382758123 rs1252146281 |
220 | Q>H | No |
ClinGen gnomAD |
|
rs756922933 CA6293467 |
221 | D>A | No |
ClinGen ExAC gnomAD |
|
CA382758127 rs756922933 |
221 | D>G | No |
ClinGen ExAC gnomAD |
|
COSM923434 rs753520776 CA6293466 |
221 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs765014573 CA6293468 |
222 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1395333697 CA382758131 |
222 | I>V | No |
ClinGen gnomAD |
|
rs1410054815 CA382758139 |
223 | E>* | No |
ClinGen gnomAD |
|
rs770837526 CA229381277 |
224 | K>E | No |
ClinGen TOPMed |
|
CA382758871 rs1460373997 |
228 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA6293485 rs761413872 |
229 | M>I | No |
ClinGen ExAC gnomAD |
|
CA382758892 rs1350847832 |
230 | M>I | No |
ClinGen gnomAD |
|
CA382758900 rs1282670694 |
231 | T>P | No |
ClinGen gnomAD |
|
TCGA novel | 231 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1453241227 CA382758911 |
232 | E>Q | No |
ClinGen gnomAD |
|
CA6293486 rs764924781 |
234 | T>N | No |
ClinGen ExAC gnomAD |
|
CA382758943 rs1400740122 |
235 | L>V | No |
ClinGen gnomAD |
|
CA6293488 rs763221923 |
236 | L>F | No |
ClinGen ExAC gnomAD |
|
CA6293489 rs766804789 |
238 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1235079855 CA382758986 |
239 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1235079855 CA382758985 |
239 | R>G | No |
ClinGen gnomAD |
|
CA6293490 rs751986449 |
239 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs923180757 CA229383957 |
242 | E>D | No |
ClinGen TOPMed |
|
CA6293491 rs201299767 |
242 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA382759016 rs1482387512 |
242 | E>Q | No |
ClinGen gnomAD |
|
rs201991200 CA229383961 |
245 | D>G | No |
ClinGen Ensembl |
|
CA382759061 rs1257250805 |
246 | K>R | No |
ClinGen gnomAD |
|
CA6293492 rs200448262 |
247 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA382759130 rs1442226311 |
252 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA6293493 rs752703242 |
253 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1488315045 CA382759151 |
254 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA382759157 rs1186554404 |
254 | L>P | No |
ClinGen gnomAD |
|
rs1167479388 CA382759176 |
256 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs1167479388 CA382759178 |
256 | V>G | No |
ClinGen TOPMed gnomAD |
|
rs1190702292 CA382759218 |
260 | Q>E | No |
ClinGen gnomAD |
|
CA6293496 rs749569347 |
260 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 265 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 266 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA382759292 rs1157162282 |
266 | E>D | No |
ClinGen gnomAD |
|
CA382759353 rs1347216272 |
271 | N>T | No |
ClinGen gnomAD |
|
CA382759380 rs1156462307 |
273 | Q>R | No |
ClinGen TOPMed |
|
CA382759872 rs1233103518 |
274 | E>K | No |
ClinGen gnomAD |
|
CA6293519 rs768631202 |
275 | I>M | No |
ClinGen ExAC gnomAD |
|
CA6293518 rs200215421 |
275 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6293521 rs748136510 |
279 | I>L | No |
ClinGen ExAC gnomAD |
|
rs1203047616 CA382759948 |
281 | D>G | No |
ClinGen gnomAD |
|
rs376006371 CA6293522 |
281 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376006371 CA6293523 |
281 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1479148078 CA382759969 |
284 | I>M | No |
ClinGen gnomAD |
|
CA6293524 rs748776198 |
284 | I>T | No |
ClinGen ExAC gnomAD |
|
CA382759966 rs1193220680 |
284 | I>V | No |
ClinGen gnomAD |
|
CA382759980 rs1340169798 |
286 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs770548546 CA6293526 |
289 | T>I | No |
ClinGen ExAC |
|
TCGA novel | 290 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6293528 rs773884931 |
290 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773884931 CA382760007 |
290 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759877069 CA6293529 |
291 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6293530 rs767912189 |
292 | K>R | No |
ClinGen ExAC gnomAD |
|
CA6293531 rs775958191 |
293 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382760037 rs1257109795 |
294 | E>D | No |
ClinGen gnomAD |
|
rs369348836 CA6293532 |
294 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA382760046 rs1591821716 |
296 | E>K | No |
ClinGen Ensembl |
|
rs1436774139 CA382760076 |
299 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs1269017654 CA382760102 |
302 | Q>E | No |
ClinGen gnomAD |
|
CA382760142 COSM3415558 rs1336881275 |
306 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA6293534 rs200034585 |
306 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1591821735 CA476900758 |
308 | K>N | No |
ClinGen Ensembl |
|
rs757299480 CA6293536 |
311 | I>T | No |
ClinGen ExAC gnomAD |
|
CA382760225 rs1213417125 |
313 | K>R | No |
ClinGen gnomAD |
|
CA382760223 rs1213417125 |
313 | K>T | No |
ClinGen gnomAD |
|
CA229385793 rs201127643 |
315 | C>G | No |
ClinGen TOPMed |
|
rs765484176 CA6293537 |
318 | G>D | No |
ClinGen ExAC gnomAD |
|
CA229385794 rs960435568 |
318 | G>S | No |
ClinGen Ensembl |
|
CA6293554 rs765272985 |
322 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1464341538 CA382712345 CA382712341 |
325 | M>I | No |
ClinGen TOPMed gnomAD |
|
rs1039671562 CA229351006 |
325 | M>V | No |
ClinGen Ensembl |
|
rs1352212974 CA382712356 |
326 | E>G | No |
ClinGen TOPMed |
|
TCGA novel | 326 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs374587734 CA6293558 |
328 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6293557 rs766737717 |
328 | D>N | No |
ClinGen ExAC gnomAD |
|
CA6293559 rs377377564 |
336 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs754841735 CA229351014 |
338 | N>S | No |
ClinGen Ensembl |
|
rs1298213167 CA382712447 |
339 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs777749135 CA6293560 |
339 | R>S | No |
ClinGen ExAC gnomAD |
|
rs749247946 CA6293561 |
341 | I>T | No |
ClinGen ExAC gnomAD |
|
CA229351021 rs893056756 |
342 | M>V | No |
ClinGen TOPMed |
|
CA6293563 rs778349990 |
344 | E>D | No |
ClinGen ExAC gnomAD |
|
CA6293564 rs745416152 |
347 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA6293565 rs368714507 |
348 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA229351089 rs370535418 |
355 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
CA6293581 rs370535418 |
355 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
CA382712578 rs1458970300 |
357 | E>Q | No |
ClinGen gnomAD |
|
rs1177542734 CA382712639 |
365 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA382712712 rs1197554327 |
369 | E>A | No |
ClinGen TOPMed |
|
CA6293589 rs769041355 |
369 | E>D | No |
ClinGen ExAC gnomAD |
|
rs185813913 CA229351112 |
380 | Y>C | No |
ClinGen 1000Genomes |
|
rs1591842367 CA382712904 |
381 | L>V | No |
ClinGen Ensembl |
|
CA6293615 rs778417285 |
384 | T>A | No |
ClinGen ExAC gnomAD |
|
CA382713050 rs778417285 |
384 | T>P | No |
ClinGen ExAC gnomAD |
|
CA6293616 rs370053483 |
385 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
CA229351467 rs993882431 |
386 | P>R | No |
ClinGen Ensembl |
|
CA382713071 rs1319773236 |
388 | L>M | No |
ClinGen gnomAD |
|
rs1469476886 CA382713074 |
388 | L>P | No |
ClinGen TOPMed |
|
rs1183663437 CA382713087 |
390 | T>I | No |
ClinGen TOPMed |
|
CA382713086 rs1233277604 |
390 | T>S | No |
ClinGen TOPMed |
|
COSM923439 CA6293617 rs373694544 |
392 | R>C | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1265709688 CA382713098 |
392 | R>H | No |
ClinGen gnomAD |
|
rs501179 CA229351471 |
394 | K>Q | No |
ClinGen Ensembl |
|
rs1485239537 CA382713125 |
396 | E>A | No |
ClinGen gnomAD |
|
TCGA novel | 398 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1202807269 CA382713152 |
399 | T>M | No |
ClinGen gnomAD |
|
CA6293618 rs774259127 |
400 | R>K | No |
ClinGen ExAC gnomAD |
|
CA382713186 rs1210344411 |
402 | N>D | No |
ClinGen TOPMed |
|
CA6293620 rs751012034 |
404 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6293621 rs775840278 |
405 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1281055959 CA382713282 |
408 | K>I | No |
ClinGen TOPMed |
|
rs377379346 CA6293622 |
409 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6293623 rs1009188753 |
412 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA382713366 rs1350644787 |
412 | R>H | No |
ClinGen gnomAD |
|
CA382715099 rs1357315049 |
414 | Q>H | No |
ClinGen gnomAD |
|
TCGA novel | 421 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6293646 rs745925375 |
425 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA382715287 rs1444107489 |
426 | A>T | No |
ClinGen gnomAD |
|
TCGA novel | 433 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA229351571 rs866545291 |
433 | Q>R | No |
ClinGen Ensembl |
|
CA382715442 rs1565348808 |
435 | P>S | No |
ClinGen Ensembl |
|
rs1232878335 CA382715462 |
436 | T>S | No |
ClinGen gnomAD |
|
rs117682598 CA6293649 |
440 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA229351589 rs1021767429 |
442 | P>S | No |
ClinGen Ensembl |
|
rs775076399 CA6293677 |
447 | D>N | No |
ClinGen ExAC gnomAD |
|
CA6293678 rs760278490 |
448 | F>L | No |
ClinGen ExAC gnomAD |
|
CA6293679 rs763829116 |
449 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756745357 CA6293680 |
451 | Q>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 452 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA382715944 rs1280488827 |
454 | Q>K | No |
ClinGen gnomAD |
|
rs750777148 CA6293683 |
456 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382716001 rs1288041985 |
456 | S>N | No |
ClinGen gnomAD |
|
rs750777148 CA6293684 |
456 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780542286 CA6293685 |
457 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs751578565 CA6293686 |
458 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6293687 rs755109152 |
459 | L>P | No |
ClinGen ExAC gnomAD |
|
CA382716078 rs1476761332 |
460 | A>P | No |
ClinGen gnomAD |
|
rs1424055272 CA382716088 |
461 | P>A | No |
ClinGen gnomAD |
|
CA6293690 rs545939645 |
462 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs375077963 CA6293689 |
462 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA382716194 rs1565349007 |
464 | P>R | No |
ClinGen Ensembl |
|
rs1415455055 CA382716237 |
466 | S>F | No |
ClinGen gnomAD |
|
CA6293691 rs778718914 |
466 | S>T | No |
ClinGen ExAC |
|
rs369438119 CA6293692 |
467 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 468 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1296975246 CA382716327 |
470 | V>F | No |
ClinGen gnomAD |
|
CA6293693 rs771991630 |
471 | T>A | No |
ClinGen ExAC gnomAD |
|
rs372942701 CA6293695 |
472 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs776400838 CA6293697 |
478 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382716634 rs1358669700 |
480 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA382716659 rs1256268572 |
481 | P>L | No |
ClinGen TOPMed |
|
rs761479903 CA6293698 |
482 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764830918 COSM1739831 CA6293699 |
482 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA382716686 rs1487382161 |
484 | L>S | No |
ClinGen gnomAD |
|
CA6293700 rs750731603 |
485 | S>C | No |
ClinGen ExAC gnomAD |
|
CA6293701 rs763238388 |
487 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1425822807 CA382716726 |
488 | I>V | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 489 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA382716753 rs1591843549 |
490 | N>T | No |
ClinGen Ensembl |
|
CA229351802 rs983615926 |
491 | P>A | No |
ClinGen TOPMed |
|
rs1165791349 CA382716790 |
493 | L>P | No |
ClinGen gnomAD |
|
CA382716785 rs1369988473 |
493 | L>V | No |
ClinGen gnomAD |
|
CA382716797 rs1591843562 |
494 | S>P | No |
ClinGen Ensembl |
|
CA382716812 rs1374898498 |
495 | Q>R | No |
ClinGen TOPMed |
|
rs752126491 CA6293703 |
497 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6293705 rs755015472 |
499 | P>S | No |
ClinGen ExAC gnomAD |
|
CA6293704 rs755015472 |
499 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1377927243 CA382716935 |
502 | P>A | No |
ClinGen gnomAD |
|
rs752739002 CA6293706 |
502 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1386253333 CA382716967 |
503 | L>H | No |
ClinGen gnomAD |
|
rs758339007 CA6293710 |
506 | S>P | No |
ClinGen ExAC gnomAD |
|
rs1342703614 CA382717057 |
507 | H>R | No |
ClinGen gnomAD |
|
CA6293711 rs780111806 |
509 | R>G | No |
ClinGen ExAC gnomAD |
|
CA229351821 rs1022812670 |
510 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA382717223 rs899548731 |
513 | G>A | No |
ClinGen TOPMed gnomAD |
|
CA229351827 rs899548731 |
513 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA382717280 rs1286851025 |
514 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA382717290 rs1344142622 |
515 | G>C | No |
ClinGen gnomAD |
|
rs77950258 CA6293712 |
516 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA382717353 rs1257998070 |
517 | L>I | No |
ClinGen TOPMed gnomAD |
|
CA382717355 rs1257998070 |
517 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA382717395 rs1201614161 |
518 | V>A | No |
ClinGen TOPMed |
|
rs768737539 CA6293713 |
518 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 521 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA382717480 rs1209186865 |
522 | G>S | No |
ClinGen TOPMed |
|
CA382717544 rs1330921144 |
524 | H>R | No |
ClinGen TOPMed |
|
rs1009499698 CA229351869 |
525 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA229351874 rs983560664 |
526 | P>S | No |
ClinGen Ensembl |
|
CA229351878 rs1020859501 |
527 | P>A | No |
ClinGen TOPMed |
|
rs1355961365 CA382717662 |
527 | P>L | No |
ClinGen TOPMed |
|
rs763371632 CA6293718 |
528 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774814849 CA6293720 |
529 | A>T | Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA382717832 rs1331130521 |
533 | P>L | No |
ClinGen gnomAD |
|
CA6293721 rs759983307 |
535 | P>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 536 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs911884747 CA229351915 |
538 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs911884747 CA229351912 |
538 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA6293723 rs752753519 |
538 | G>S | No |
ClinGen ExAC gnomAD |
|
CA6293726 rs754052074 |
539 | G>D | No |
ClinGen ExAC gnomAD |
|
rs376329252 CA6293725 |
539 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1591843746 CA382718176 |
546 | T>P | No |
ClinGen Ensembl |
|
rs900716005 CA229351941 |
547 | P>R | No |
ClinGen Ensembl |
|
CA229351938 rs1039075067 |
547 | P>S | No |
ClinGen gnomAD |
|
CA6293730 rs371048883 |
548 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs746832862 CA6293729 |
548 | R>W | No |
ClinGen ExAC gnomAD |
|
CA6293731 rs781003395 |
549 | P>L | No |
ClinGen ExAC gnomAD |
|
CA6293732 rs781003395 |
549 | P>R | No |
ClinGen ExAC gnomAD |
|
rs1197333015 CA382718328 |
551 | P>A | No |
ClinGen gnomAD |
|
CA382718359 rs1565349301 |
552 | V>A | No |
ClinGen Ensembl |
|
rs201310487 CA6293734 |
553 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1319330749 CA382718537 |
557 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs759895613 CA6293738 |
560 | E>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 560 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1426206676 CA382718705 |
562 | L>M | No |
ClinGen TOPMed |
|
TCGA novel | 563 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA382718795 rs1188773281 |
565 | R>Q | No |
ClinGen TOPMed |
|
rs768001744 CA6293739 |
565 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 567 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA382719097 rs1217941909 |
570 | N>S | No |
ClinGen gnomAD |
|
rs1276066747 CA382719165 |
571 | K>R | No |
ClinGen gnomAD |
|
rs750740579 CA382719412 |
572 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750740579 CA6293764 |
572 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6293765 rs370184715 |
576 | N>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 579 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6293768 rs769510610 |
583 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1385915265 CA382719784 |
584 | A>S | No |
ClinGen gnomAD |
|
COSM923447 rs1344664918 CA382719811 |
585 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA382719932 rs1419215469 |
589 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1436268816 CA382720009 |
593 | M>V | No |
ClinGen TOPMed |
|
rs539528269 CA6293772 |
595 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA382720154 rs1431408361 |
597 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA6293773 rs756829944 |
599 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382720249 rs1376788834 |
603 | R>Q | No |
ClinGen gnomAD |
|
CA229352134 rs1053478119 |
605 | A>G | No |
ClinGen TOPMed |
|
rs1397402480 CA382720297 |
606 | E>K | No |
ClinGen gnomAD |
|
rs546415772 CA229352135 |
607 | H>R | No |
ClinGen 1000Genomes TOPMed |
|
rs370702034 COSM374073 CA6293775 |
609 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs778509558 CA6293774 |
609 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771783290 CA6293776 |
611 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA229352219 rs868458122 |
616 | P>S | No |
ClinGen Ensembl |
|
rs1591844094 CA382720667 |
618 | G>D | No |
ClinGen Ensembl |
|
CA6293796 rs760910814 |
619 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6293797 rs781754384 |
619 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382720722 rs1190719761 |
620 | I>F | No |
ClinGen gnomAD |
|
CA229352234 rs749164571 |
621 | R>G | No |
ClinGen TOPMed |
|
rs770446837 CA6293799 |
621 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA6293800 rs773381685 |
622 | A>T | No |
ClinGen ExAC gnomAD |
|
CA229352249 rs377098061 |
623 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377098061 CA6293801 |
623 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA382720879 rs1399361873 |
624 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA6293802 rs770997844 |
625 | P>S | No |
ClinGen ExAC gnomAD |
|
rs760358844 CA6293805 |
630 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1289329921 CA382721117 |
632 | S>G | No |
ClinGen TOPMed |
|
rs1272593590 CA382721124 |
632 | S>I | No |
ClinGen gnomAD |
|
rs368509571 CA6293806 |
633 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
CA6293807 rs372440280 |
635 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1317755632 CA382721314 |
638 | P>S | No |
ClinGen gnomAD |
|
CA6293808 rs761702440 |
640 | A>V | No |
ClinGen ExAC gnomAD |
|
CA382721466 rs1438632470 |
642 | V>A | No |
ClinGen gnomAD |
|
rs765944819 CA6293812 |
643 | S>L | No |
ClinGen ExAC gnomAD |
|
CA6293811 rs143401559 |
643 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 648 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 649 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA229352294 rs549269094 |
650 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs781648496 CA6293815 |
650 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs767282551 CA6293833 |
652 | P>A | No |
ClinGen ExAC gnomAD |
|
CA382722114 rs767282551 |
652 | P>S | No |
ClinGen ExAC gnomAD |
|
CA6293837 rs754419557 |
655 | C>S | No |
ClinGen ExAC gnomAD |
|
rs754419557 CA382722202 |
655 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA382722422 rs1285409326 |
660 | M>R | No |
ClinGen gnomAD |
|
CA382722610 rs757728340 |
663 | K>N | No |
ClinGen ExAC gnomAD |
|
CA6293839 rs779011481 |
664 | L>F | No |
ClinGen ExAC gnomAD |
|
rs772228026 CA6293841 |
665 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6293842 rs780315682 |
666 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1049219720 CA229352453 |
674 | A>S | No |
ClinGen TOPMed |
|
rs1049219720 CA382722882 |
674 | A>T | No |
ClinGen TOPMed |
|
CA6293844 rs769620066 |
674 | A>V | No |
ClinGen ExAC gnomAD |
|
rs528961932 CA229352470 |
676 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs528961932 CA6293846 |
676 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1004829247 CA229352474 |
678 | V>I | No |
ClinGen gnomAD |
|
CA382723108 rs1311188209 |
682 | E>G | No |
ClinGen TOPMed |
|
CA6293863 rs749037579 |
684 | I>V | No |
ClinGen ExAC gnomAD |
|
CA6293864 rs770843187 |
687 | W>G | No |
ClinGen ExAC gnomAD |
|
rs1446873608 CA382724765 |
688 | A>G | No |
ClinGen TOPMed |
|
CA6293865 rs774212231 |
688 | A>S | No |
ClinGen ExAC |
|
TCGA novel | 689 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1284418857 CA382724813 |
691 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1363755708 CA382724847 |
692 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs200340172 CA6293867 |
693 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382724913 rs1330382178 |
695 | T>A | No |
ClinGen gnomAD |
|
rs1324064284 CA382724991 |
698 | F>S | No |
ClinGen gnomAD |
|
rs1246194449 CA382725032 |
700 | P>S | No |
ClinGen TOPMed |
|
rs1036527018 CA229356753 |
701 | T>A | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q8ND24
1 regional properties for Q8ND24
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Zinc finger, RING-type | 658 - 699 | IPR001841 |
No GO annotations of cellular component
Name | Definition |
---|---|
No GO annotations for cellular component |
2 GO annotations of molecular function
Name | Definition |
---|---|
metal ion binding | Binding to a metal ion. |
ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
No GO annotations of biological process
Name | Definition |
---|---|
No GO annotations for biological process |
1 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q86Y13 | DZIP3 | E3 ubiquitin-protein ligase DZIP3 | Homo sapiens (Human) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MAASEVAGVV | ANAPSPPESS | SLCASKSDEG | LPDGLSTKDS | AQKQKNSPLL | SVSSQTITKE |
70 | 80 | 90 | 100 | 110 | 120 |
NNRNVHLEHS | EQNPGSSAGD | TSAAHQVVLG | ENLIATALCL | SGSGSQSDLK | DVASTAGEEG |
130 | 140 | 150 | 160 | 170 | 180 |
DTSLRESLHP | VTRSLKAGCH | TKQLASRNCS | EEKSPQTSIL | KEGNRDTSLD | FRPVVSPANG |
190 | 200 | 210 | 220 | 230 | 240 |
VEGVRVDQDD | DQDSSSLKLS | QNIAVQTDFK | TADSEVNTDQ | DIEKNLDKMM | TERTLLKERY |
250 | 260 | 270 | 280 | 290 | 300 |
QEVLDKQRQV | ENQLQVQLKQ | LQQRREEEMK | NHQEILKAIQ | DVTIKREETK | KKIEKEKKEF |
310 | 320 | 330 | 340 | 350 | 360 |
LQKEQDLKAE | IEKLCEKGRR | EVWEMELDRL | KNQDGEINRN | IMEETERAWK | AEILSLESRK |
370 | 380 | 390 | 400 | 410 | 420 |
ELLVLKLEEA | EKEAELHLTY | LKSTPPTLET | VRSKQEWETR | LNGVRIMKKN | VRDQFNSHIQ |
430 | 440 | 450 | 460 | 470 | 480 |
LVRNGAKLSS | LPQIPTPTLP | PPPSETDFML | QVFQPSPSLA | PRMPFSIGQV | TMPMVMPSAD |
490 | 500 | 510 | 520 | 530 | 540 |
PRSLSFPILN | PALSQPSQPS | SPLPGSHGRN | SPGLGSLVSP | HGPHMPPAAS | IPPPPGLGGV |
550 | 560 | 570 | 580 | 590 | 600 |
KASAETPRPQ | PVDKLEKILE | KLLTRFPQCN | KAQMTNILQQ | IKTARTTMAG | LTMEELIQLV |
610 | 620 | 630 | 640 | 650 | 660 |
AARLAEHERV | AASTQPLGRI | RALFPAPLAQ | ISTPMFLPSA | QVSYPGRSSH | APATCKLCLM |
670 | 680 | 690 | 700 | ||
CQKLVQPSEL | HPMACTHVLH | KECIKFWAQT | NTNDTCPFCP | TLK |