Q15052
PR
Gene name |
ARHGEF6 (COOL2, KIAA0006, PIXA) |
Protein name |
Rho guanine nucleotide exchange factor 6 |
Names |
Alpha-Pix, COOL-2, PAK-interacting exchange factor alpha, Rac/Cdc42 guanine nucleotide exchange factor 6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9459 |
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
3 structures for Q15052
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1UJY | NMR | - | A | 160-222 | PDB |
| 1WYR | NMR | - | A | 4-111 | PDB |
| AF-Q15052-F1 | Predicted | AlphaFoldDB |
393 variants for Q15052
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000990954 RCV000721042 CA208078 RCV000194124 rs147131853 RCV000872853 |
57 | C>R | History of neurodevelopmental disorder Intellectual disability, X-linked 46 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002316292 RCV000871412 RCV000116412 RCV000609668 rs35106300 CA151900 |
121 | R>H | Inborn genetic diseases Intellectual disability, X-linked 46 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000192797 rs75329154 RCV000877163 CA205870 RCV000263759 RCV002362998 |
229 | V>I | Inborn genetic diseases Non-syndromic X-linked intellectual disability [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002316463 CA10528487 rs5974620 RCV000513689 VAR_051981 |
297 | Q>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001197148 RCV002560230 rs761576293 CA10528468 |
336 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001251679 rs757760891 CA10528414 |
463 | C>R | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2076312974 RCV001329325 |
590 | S>N | Intellectual disability, X-linked 46 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002275049 rs375084147 RCV000990953 RCV000520678 CA10528268 |
648 | K>R | ARHGEF6-associated Neurodevelopmental disorder Intellectual disability, X-linked 46 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002546316 RCV001329326 CA414758895 rs1426557239 |
675 | G>V | Inborn genetic diseases Intellectual disability, X-linked 46 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2076230593 RCV001253004 |
694 | E>K | Vanishing white matter disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1228228200 CA414760879 |
3 | P>A | No |
ClinGen TOPMed |
|
|
CA10528640 rs762716148 |
7 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35747426 CA336280710 |
11 | L>P | No |
ClinGen Ensembl |
|
|
rs1057522694 CA16608714 RCV000441407 |
12 | I>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 17 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 18 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343745330 CA414760755 |
19 | S>C | No |
ClinGen gnomAD |
|
|
rs769610072 CA10528638 |
22 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769610072 CA10528637 |
22 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745759139 CA10528636 |
24 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414760601 COSM1465887 rs1288145761 |
27 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs373683437 CA336280709 |
27 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA10528633 rs748176988 |
28 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10528632 rs779103345 |
30 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 31 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755130149 CA10528631 |
34 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA10528629 rs780524327 |
39 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 40 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10528628 rs756567395 |
40 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs767913547 CA10528626 |
45 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA414760366 rs1181194857 |
45 | I>V | No |
ClinGen gnomAD |
|
|
rs1259516866 CA414760318 |
48 | L>V | No |
ClinGen gnomAD |
|
|
CA414760292 rs1168744786 |
49 | M>I | No |
ClinGen TOPMed |
|
|
CA336280708 rs890270237 |
50 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA414760244 rs1374723724 |
53 | V>M | No |
ClinGen TOPMed |
|
|
CA414759863 rs1320402929 |
57 | C>F | No |
ClinGen gnomAD |
|
|
rs759335080 CA10528620 |
62 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1207081844 CA414759750 |
65 | D>V | No |
ClinGen TOPMed |
|
|
CA414759713 rs1388197781 |
68 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 69 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776559762 CA10528619 |
71 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419815256 CA414759645 |
76 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1165537127 CA414759603 |
79 | T>A | No |
ClinGen gnomAD |
|
|
CA414759584 rs1472441650 |
81 | Q>K | No |
ClinGen gnomAD |
|
|
CA209741 rs149768069 RCV000918393 RCV000195123 |
88 | D>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1469560107 CA414759240 |
93 | G>E | No |
ClinGen gnomAD |
|
|
CA414759228 rs1253949637 |
94 | V>D | No |
ClinGen gnomAD |
|
|
rs141247682 CA10528603 |
95 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA336278355 rs879204286 |
97 | S>F | No |
ClinGen Ensembl |
|
|
CA10528602 rs769060319 |
98 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10528600 rs773226651 |
99 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs760491951 CA10528601 |
99 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1048782068 CA336278353 |
101 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 102 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414759136 rs1354517467 |
105 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 106 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763130256 CA10528598 |
107 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA414759124 rs1295530609 |
107 | N>S | No |
ClinGen gnomAD |
|
|
rs1228689554 CA414759101 |
111 | E>Q | No |
ClinGen TOPMed |
|
|
rs778448157 CA10528588 |
112 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs754597402 CA10528587 |
116 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10528586 rs753561970 |
117 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1603351454 CA414758821 |
118 | P>R | No |
ClinGen Ensembl |
|
|
rs766041367 CA10528585 |
119 | C>S | No |
ClinGen ExAC |
|
|
rs760535411 CA10528584 |
121 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA336278218 rs868859251 |
128 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 129 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414758746 rs1306168615 |
130 | T>I | No |
ClinGen gnomAD |
|
|
CA10528583 rs767558559 |
134 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs761900156 COSM1115814 CA10528582 |
136 | Q>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10528581 rs775679886 |
137 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775679886 CA336278217 |
137 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs770024796 CA10528580 |
140 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1410573376 CA414758671 |
142 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 144 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 146 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA222796 rs398124186 RCV000081185 |
152 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA10528561 rs144171880 |
156 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs144171880 CA414758459 |
156 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414758449 rs1207018046 |
157 | E>G | No |
ClinGen TOPMed |
|
|
rs1603351086 CA414758411 |
160 | S>N | No |
ClinGen Ensembl |
|
|
rs773538676 CA10528559 |
164 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA10528560 rs760852295 |
164 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748608017 CA10528557 |
170 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs774855727 CA10528556 |
174 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414758193 rs1482691719 |
175 | N>S | No |
ClinGen TOPMed |
|
|
CA10528555 rs767986900 |
179 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA414758161 rs1183827748 |
180 | S>P | No |
ClinGen TOPMed |
|
|
CA236368 RCV000171446 rs755769516 |
185 | D>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 185 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414758117 rs1187823589 |
186 | I>N | No |
ClinGen TOPMed |
|
|
CA414758099 rs1368379563 |
189 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 191 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1603351060 CA414758077 |
192 | V>D | No |
ClinGen Ensembl |
|
| TCGA novel | 194 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182216332 CA336278111 |
194 | E>G | No |
ClinGen 1000Genomes TOPMed |
|
|
CA10528550 rs757130619 |
194 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10528549 rs751473214 |
203 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10528548 rs764121106 |
205 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 206 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414757918 rs1488710936 COSM755215 |
215 | R>H | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10528546 rs139422484 |
216 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10528534 rs763421023 |
221 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257391129 CA414756841 |
221 | E>G | No |
ClinGen gnomAD |
|
|
rs775034365 CA10528533 |
224 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs769209490 CA10528532 |
225 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10528531 rs745458792 |
226 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA10528530 rs780994752 |
226 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs755916219 CA336277236 |
229 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1376818944 CA414756484 |
234 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA336277235 rs866468522 |
235 | A>S | No |
ClinGen Ensembl |
|
|
rs1473480109 CA414756443 |
236 | P>L | No |
ClinGen gnomAD |
|
|
rs752612040 CA10528525 |
237 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs373788009 CA10528523 |
240 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750580186 CA10528522 |
241 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414756351 rs1200608528 |
243 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 247 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776336229 CA10528509 |
249 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs565850714 CA336275846 |
250 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA414753838 rs1337805384 |
251 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 254 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10528506 rs777581365 |
256 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1272486301 CA414753693 |
257 | A>V | No |
ClinGen gnomAD |
|
|
CA414753510 rs1389018512 |
265 | V>L | No |
ClinGen gnomAD |
|
|
CA414753489 rs1569405132 |
266 | T>I | No |
ClinGen Ensembl |
|
|
rs1319677797 CA414753472 |
268 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1308937756 CA414753408 |
270 | P>H | No |
ClinGen TOPMed |
|
|
CA414753355 rs1392761166 |
273 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA414753299 rs1163809166 |
276 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs868099426 CA414762526 |
278 | S>C | No |
ClinGen gnomAD |
|
|
rs868099426 CA336275135 |
278 | S>G | No |
ClinGen gnomAD |
|
|
rs148628394 CA10528493 |
278 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs889623931 CA336275132 |
279 | T>A | No |
ClinGen Ensembl |
|
|
CA414762501 rs892895696 |
282 | V>F | No |
ClinGen TOPMed |
|
|
CA336275129 rs892895696 |
282 | V>I | No |
ClinGen TOPMed |
|
|
rs760166273 CA10528491 |
289 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs776248155 CA10528489 |
290 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA336275122 rs1031873966 |
293 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1479202674 CA414762424 |
294 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 296 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198696436 CA414762402 |
297 | Q>K | No |
ClinGen gnomAD |
|
|
CA10528486 rs772756893 |
298 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs187104213 CA10528484 |
305 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 308 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569403107 CA414762323 |
308 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 316 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 317 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569402435 CA414762235 |
318 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA414762190 rs765933322 |
325 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765933322 CA10528472 |
325 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 329 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414762151 rs1164808567 |
330 | M>R | No |
ClinGen TOPMed |
|
|
rs1482760845 CA414762144 |
331 | Y>C | No |
ClinGen gnomAD |
|
|
rs772847753 CA10528470 |
332 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460831915 CA414762132 |
333 | A>V | No |
ClinGen TOPMed |
|
|
CA10528469 rs767066725 |
334 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 335 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA336274885 rs897415124 |
344 | V>M | No |
ClinGen TOPMed |
|
|
CA414762027 rs1218398349 |
349 | S>G | No |
ClinGen gnomAD |
|
|
CA10528461 rs769789476 |
354 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs769789476 CA336272435 |
354 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs747044748 CA10528460 |
355 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1569395874 CA414761957 |
356 | M>I | No |
ClinGen Ensembl |
|
|
rs1387103009 CA414761954 |
357 | E>K | No |
ClinGen TOPMed |
|
|
CA414761930 rs1302282062 |
360 | G>S | No |
ClinGen TOPMed |
|
|
CA10528459 rs777956624 |
360 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779277722 CA414761925 RCV000502677 |
361 | A>S | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA10528458 rs779277722 |
361 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369636192 CA10528457 |
362 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755410840 CA10528455 |
363 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 366 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA336272421 rs375550477 |
371 | T>K | No |
ClinGen ESP |
|
|
rs1328419435 CA414761812 |
378 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 378 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328419435 CA414761814 |
378 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 379 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752815354 CA336272417 |
379 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 384 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942797542 CA336272412 |
392 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10528452 rs756705199 |
392 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA336272409 rs778051195 |
393 | H>R | No |
ClinGen 1000Genomes |
|
|
CA336272080 rs532348958 |
397 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532348958 RCV000194793 CA209206 |
397 | T>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA10528443 RCV000596301 rs773123932 |
401 | H>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA336272075 rs887745729 |
406 | K>E | No |
ClinGen Ensembl |
|
|
rs1321730823 CA414761600 |
407 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748256917 CA10528441 |
408 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10528440 rs747013304 |
409 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA336272073 rs747013304 |
409 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1434827275 CA414761566 |
412 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 414 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375664814 CA10528429 |
418 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1064796226 CA16621211 RCV000482332 |
424 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1306060923 CA414761449 |
427 | L>V | No |
ClinGen gnomAD |
|
|
rs892111490 CA336271668 |
431 | I>M | No |
ClinGen TOPMed |
|
|
rs1387810071 CA414761408 |
433 | S>Y | No |
ClinGen gnomAD |
|
|
CA10528427 rs759340844 COSM3843712 |
434 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA414761366 rs1302402182 |
439 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10528426 rs776639562 |
439 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs771975137 CA10528424 |
442 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA414761340 rs1460660551 |
443 | D>Y | No |
ClinGen gnomAD |
|
|
CA10528422 rs761952185 |
444 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 444 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414761328 rs1206412256 |
445 | K>Q | No |
ClinGen TOPMed |
|
|
CA414761315 rs1464926161 |
446 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs371126822 CA10528420 |
447 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197265475 CA414761303 |
448 | G>E | No |
ClinGen gnomAD |
|
|
rs1268094237 CA414761305 |
448 | G>R | No |
ClinGen gnomAD |
|
|
CA414761292 rs1483719180 |
450 | V>M | No |
ClinGen gnomAD |
|
|
CA414761270 rs780526550 |
453 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780526550 CA10528418 |
453 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10528417 rs137954745 |
457 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414761230 rs1481570865 |
458 | V>A | No |
ClinGen TOPMed |
|
|
rs1234382995 CA414761225 |
459 | Q>R | No |
ClinGen gnomAD |
|
|
rs781719668 CA10528415 |
460 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10528416 rs748837434 |
460 | Y>H | No |
ClinGen 1000Genomes ExAC |
|
|
CA414761204 rs1157163396 |
462 | A>V | No |
ClinGen TOPMed |
|
|
COSM250842 rs201896882 CA10528388 |
469 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs147323188 CA10528389 |
469 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 470 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755356810 CA336271155 |
470 | Y>S | No |
ClinGen Ensembl |
|
|
rs764213503 CA10528385 |
472 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750409513 CA10528386 |
472 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA414761114 rs1316734973 |
474 | F>I | No |
ClinGen TOPMed |
|
|
rs763131861 CA10528384 |
476 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414761100 rs763131861 |
476 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 478 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10528382 rs765473887 |
483 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760285231 CA10528381 |
486 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1266145678 CA414761033 |
486 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777014241 CA10528380 |
487 | M>L | No |
ClinGen ExAC |
|
|
CA414761028 rs1380829601 |
487 | M>T | No |
ClinGen gnomAD |
|
|
rs1320960404 CA414760999 |
491 | I>V | No |
ClinGen TOPMed |
|
|
CA10528379 rs771303937 |
492 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA414760963 rs1339750537 |
494 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757308541 CA10528368 |
495 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416371398 CA414760957 |
495 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 496 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426404433 CA414760929 |
499 | A>G | No |
ClinGen TOPMed |
|
|
rs144055165 CA10528367 RCV000864638 |
501 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1373168537 CA414760775 |
505 | R>K | No |
ClinGen TOPMed |
|
|
CA10528366 rs765263067 |
506 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA10528365 rs759754670 |
511 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466675036 CA414760714 |
511 | G>R | No |
ClinGen TOPMed |
|
|
CA10528364 rs754017215 |
513 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 514 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414760683 rs1170028473 |
514 | C>Y | No |
ClinGen gnomAD |
|
|
CA336271002 rs946364955 |
515 | T>A | No |
ClinGen TOPMed |
|
|
CA10528363 rs766658708 |
515 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs2076336160 RCV001092166 |
517 | E>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 520 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 521 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1046307722 CA336270861 |
521 | N>S | No |
ClinGen Ensembl |
|
|
CA10528352 rs765973398 |
523 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757220742 CA10528350 |
524 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10528351 rs138339312 |
524 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10528349 rs757220742 |
524 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751472735 CA10528348 |
526 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1373347014 CA414760469 |
529 | H>L | No |
ClinGen gnomAD |
|
|
CA336270854 rs199878133 |
530 | C>F | No |
ClinGen gnomAD |
|
|
CA336270852 rs1034204378 |
532 | N>S | No |
ClinGen TOPMed |
|
|
rs1475849637 CA414760419 |
533 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 534 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326524065 CA414760398 |
535 | D>N | No |
ClinGen gnomAD |
|
|
rs1194539794 CA414760324 |
540 | L>V | No |
ClinGen TOPMed |
|
|
CA414760216 rs1416507900 |
549 | G>R | No |
ClinGen gnomAD |
|
|
rs1430442989 CA414760201 |
550 | P>S | No |
ClinGen gnomAD |
|
|
rs754014585 CA10528346 |
553 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs760939784 CA10528344 |
556 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA414760146 rs1469725127 |
557 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 559 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376722257 CA10528343 |
560 | S>L | No |
ClinGen ExAC |
|
|
CA10528342 rs767903935 |
561 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA414760122 rs767903935 |
561 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774734407 CA10528340 RCV000500952 |
562 | S>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA414760115 rs1603334280 |
563 | S>P | No |
ClinGen Ensembl |
|
|
rs768146006 CA10528339 |
565 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs775198963 CA10528337 |
567 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs775198963 CA10528338 |
567 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1316671938 CA414760083 |
568 | S>A | No |
ClinGen TOPMed |
|
|
rs1343175637 CA414760065 |
569 | S>T | No |
ClinGen TOPMed |
|
|
CA336270681 rs936920662 |
572 | S>F | No |
ClinGen TOPMed |
|
|
CA414760033 rs1182718802 |
573 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA414760035 rs1182718802 |
573 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs764498295 CA10528321 |
576 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs763553724 CA10528320 |
576 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs764498295 CA10528322 |
576 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs764498295 CA414760018 |
576 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs775098750 CA10528319 RCV000996028 |
577 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 578 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 580 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1603333408 CA414759997 |
580 | L>W | No |
ClinGen Ensembl |
|
|
rs759207016 CA10528317 |
581 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10528315 rs770679754 |
588 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA336270667 rs770679754 |
588 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA336270663 RCV000607598 rs938254089 |
590 | S>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 590 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 591 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414759922 rs1220265236 |
591 | L>V | No |
ClinGen TOPMed |
|
|
CA414759894 rs1303897499 |
595 | R>* | No |
ClinGen TOPMed |
|
|
CA336270659 rs771876538 |
596 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA10528312 rs771876538 |
596 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA414759873 rs1351874574 |
597 | A>T | No |
ClinGen TOPMed |
|
|
CA414759862 rs1425431092 |
597 | A>V | No |
ClinGen gnomAD |
|
|
rs748119122 CA10528311 |
598 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA414759819 rs1161967868 |
601 | R>* | No |
ClinGen gnomAD |
|
|
CA414759813 rs1603333290 |
601 | R>I | No |
ClinGen Ensembl |
|
|
rs926622130 COSM1115794 CA336270653 |
605 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs756204695 CA10528309 |
609 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1427741177 CA414759608 |
612 | M>I | No |
ClinGen gnomAD |
|
|
rs750917351 CA336270402 |
613 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs774280200 CA10528293 |
614 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs761684009 CA10528294 |
614 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1336490247 CA414759500 |
620 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs774190321 CA10528274 |
625 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 635 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414759383 rs1461701984 |
636 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 637 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10528272 rs762920462 |
640 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771055558 CA10528270 |
643 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA336270214 rs1029200973 |
649 | S>C | No |
ClinGen TOPMed |
|
|
CA414759041 rs1381790808 |
655 | E>K | No |
ClinGen gnomAD |
|
|
CA414758998 rs1206724006 |
661 | K>E | No |
ClinGen TOPMed |
|
|
rs1603330538 CA414758984 |
663 | I>V | No |
ClinGen Ensembl |
|
|
rs1384992963 CA414758959 |
666 | Y>F | No |
ClinGen gnomAD |
|
|
rs751326434 CA10528257 |
668 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10528256 rs763897398 |
669 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414758940 rs1163887909 |
669 | S>T | No |
ClinGen gnomAD |
|
|
rs775500896 CA10528255 |
670 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM174019 rs775500896 CA336269860 |
670 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1195902561 CA414758911 |
673 | Q>L | No |
ClinGen gnomAD |
|
|
rs1448101861 CA414758890 |
676 | H>R | No |
ClinGen gnomAD |
|
|
rs765154485 CA10528254 |
677 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970851888 COSM243044 CA336269451 |
681 | R>Q | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA414758562 rs1489915588 |
683 | D>N | No |
ClinGen gnomAD |
|
|
CA10528237 rs765195778 |
684 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376499517 CA336269447 |
686 | P>T | No |
ClinGen ESP |
|
|
rs1269462510 CA414758531 |
688 | V>I | No |
ClinGen gnomAD |
|
|
RCV000996027 rs770180249 |
690 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 691 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 691 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA336269445 rs17855660 |
693 | E>* | No |
ClinGen Ensembl |
|
|
rs773714169 CA10528234 |
695 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414758439 rs1283392244 |
696 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA336269439 rs759440067 |
698 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 700 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414758375 rs1350294931 |
700 | E>G | No |
ClinGen TOPMed |
|
|
CA414758359 COSM4154853 rs1442866600 |
701 | T>S | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs762071797 CA10528232 |
703 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10528230 rs769066918 |
705 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414758280 rs1396232977 |
707 | T>I | No |
ClinGen gnomAD |
|
|
CA336269434 rs1017941774 |
708 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA414758277 rs1017941774 |
708 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10528229 rs749652135 |
709 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373271590 CA336269433 |
710 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 711 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 712 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222362897 CA414757855 |
713 | S>R | No |
ClinGen gnomAD |
|
|
CA414757860 rs1204216825 |
713 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 714 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10528223 rs746586184 |
714 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA414757847 rs1280860536 |
715 | V>F | No |
ClinGen gnomAD |
|
|
rs144205542 RCV000493787 CA10528222 |
716 | D>A | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376242035 CA336269075 COSM1183537 |
720 | A>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs376242035 CA10528219 |
720 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1185398230 CA414757804 |
722 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 724 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000414305 rs373225685 CA10528218 |
724 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs767640031 CA10528216 |
726 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10528214 rs751747540 |
729 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 731 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 735 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1044202181 RCV000498189 CA336268866 |
736 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs754736652 CA10528200 |
738 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs140378313 RCV000948327 CA10528199 |
739 | L>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 741 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000493364 rs1131691451 CA414757611 |
747 | R>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 750 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1314819867 CA414757571 |
753 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763188476 CA10528194 |
754 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA336268855 COSM1115791 rs960928833 |
754 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs373255984 CA10528191 |
760 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA414757506 rs1163093258 |
763 | C>G | No |
ClinGen TOPMed |
|
|
rs138794213 CA10528190 |
763 | C>Y | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs952314313 COSM1115790 CA336268848 |
765 | R>* | Variant assessed as Somatic; 6.258e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10528189 rs368151602 COSM1465875 |
765 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs761201378 CA336268843 |
767 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565928900 CA10528188 |
767 | E>K | Variant assessed as Somatic; 6.259e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA336268841 rs867146580 |
768 | S>F | No |
ClinGen Ensembl |
|
|
CA10528186 rs375729345 |
770 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1421909722 CA414757436 |
774 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 775 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q15052
1 regional properties for Q15052
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Fungal lipase-like domain | 303 - 350 | IPR002921 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell. |
| lamellipodium assembly | Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8K4I3 | Arhgef6 | Rho guanine nucleotide exchange factor 6 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNPEEQIVTW | LISLGVLESP | KKTICDPEEF | LKSSLKNGVV | LCKLINRLMP | GSVEKFCLDP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QTEADCINNI | NDFLKGCATL | QVEIFDPDDL | YSGVNFSKVL | STLLAVNKAT | EDQLSERPCG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RSSSLSAANT | SQTNPQGAVS | STVSGLQRQS | KTVEMTENGS | HQLIVKARFN | FKQTNEDELS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VCKGDIIYVT | RVEEGGWWEG | TLNGRTGWFP | SNYVREIKSS | ERPLSPKAVK | GFETAPLTKN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YYTVVLQNIL | DTEKEYAKEL | QSLLVTYLRP | LQSNNNLSTV | EVTSLLGNFE | EVCTFQQTLC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QALEECSKFP | ENQHKVGGCL | LSLMPHFKSM | YLAYCANHPS | AVNVLTQHSD | ELEQFMENQG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ASSPGILILT | TNLSKPFMRL | EKYVTLLQEL | ERHMEDTHPD | HQDILKAIVA | FKTLMGQCQD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LRKRKQLELQ | ILSEPIQAWE | GEDIKNLGNV | IFMSQVMVQY | GACEEKEERY | LMLFSNVLIM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LSASPRMSGF | IYQGKIPIAG | TVVTRLDEIE | GNDCTFEITG | NTVERIVVHC | NNNQDFQEWL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EQLNRLIRGP | ASCSSLSKTS | SSSCSAHSSF | SSTGQPRGPL | EPPQIIKPWS | LSCLRPAPPL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RPSAALGYKE | RMSYILKESS | KSPKTMKKFL | HKRKTERKPS | EEEYVIRKST | AALEEDAQIL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KVIEAYCTSA | NFQQGHGSST | RKDSIPQVLL | PEEEKLIIEE | TRSNGQTIME | EKSLVDTVYA |
| 730 | 740 | 750 | 760 | 770 | |
| LKDEVRELKQ | ENKRMKQCLE | EELKSRRDLE | KLVRRLLKQT | DECIRGESSS | KTSILP |