Q9UPY6
PR
Gene name |
WASF3 (KIAA0900, SCAR3, WAVE3) |
Protein name |
Actin-binding protein WASF3 |
Names |
Protein WAVE-3, Verprolin homology domain-containing protein 3, Wiskott-Aldrich syndrome protein family member 3, WASP family protein member 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10810 |
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 Q9UPY6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UPY6-F1 | Predicted | AlphaFoldDB |
404 variants for Q9UPY6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6924687 rs772534603 |
2 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6924688 rs773765811 |
4 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1343837679 CA387621514 |
6 | R>S | No |
ClinGen TOPMed |
|
|
CA387621519 rs1167270571 |
7 | N>S | No |
ClinGen TOPMed |
|
|
rs747359757 CA6924689 |
7 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1593165707 CA387621528 |
8 | I>M | No |
ClinGen Ensembl |
|
|
CA6924690 rs771147481 |
8 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA387621539 rs1424207161 COSM1232496 |
10 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6924693 rs145251421 |
11 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs145251421 CA6924694 COSM1366134 |
11 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA387621544 rs1478789052 |
11 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA247222259 rs993569468 |
13 | L>V | No |
ClinGen Ensembl |
|
|
CA6924697 rs767463812 |
15 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6924699 rs755864030 |
15 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6924698 rs767463812 |
15 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387621584 rs1478826595 |
18 | L>V | No |
ClinGen TOPMed |
|
|
CA6924700 rs765996441 |
20 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186172077 CA387621619 |
23 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 26 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430238501 CA387621658 |
29 | V>I | No |
ClinGen gnomAD |
|
|
CA6924703 rs778607105 |
31 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs375670514 CA6924702 |
31 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387621682 rs1593165765 |
32 | S>R | No |
ClinGen Ensembl |
|
|
CA387621699 rs1258752181 |
35 | A>D | No |
ClinGen TOPMed |
|
|
rs758928652 CA6924706 |
36 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758928652 COSM3417495 CA247222314 COSM3417494 |
36 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6924708 rs143970554 |
37 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6924710 rs776904217 |
38 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6924711 rs200937951 COSM946375 |
39 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6924712 rs774059020 |
39 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387621727 rs1361674635 |
40 | Q>L | No |
ClinGen gnomAD |
|
|
rs775498325 CA6924713 |
43 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs749306043 CA6924733 |
46 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6924734 rs768781005 |
47 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387620815 rs1355436581 |
48 | A>V | No |
ClinGen TOPMed |
|
|
rs201910270 CA6924737 |
51 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6924738 rs776241773 |
52 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs759439935 CA6924739 |
53 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1465164494 CA387620889 |
55 | L>* | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1315425155 CA387620911 |
57 | N>D | No |
ClinGen TOPMed |
|
|
CA387620939 rs752413499 |
59 | A>S | No |
ClinGen ExAC TOPMed |
|
|
CA6924741 rs752413499 |
59 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA6924743 rs762542009 |
60 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs763549995 CA6924745 |
61 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1378865423 CA387620967 |
61 | N>S | No |
ClinGen TOPMed |
|
|
rs530513372 CA6924746 |
62 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA6924747 rs757652588 |
63 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6924748 rs781737859 COSM3793226 COSM3793225 |
65 | R>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA247193243 rs763206828 |
66 | A>V | No |
ClinGen Ensembl |
|
|
CA387621101 rs750718912 |
73 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA6924749 rs750718912 |
73 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1208830880 CA387621108 |
73 | I>M | No |
ClinGen Ensembl |
|
|
CA387621124 rs1293340470 |
75 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6924750 rs9512318 |
75 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1342499003 CA387621162 |
79 | K>Q | No |
ClinGen gnomAD |
|
|
CA247193254 rs913055938 |
79 | K>R | No |
ClinGen gnomAD |
|
|
CA6924751 rs780239881 |
80 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA387621218 rs1483774588 |
84 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs552130698 CA6924754 |
86 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755108011 CA6924771 |
90 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265995784 CA387621797 |
94 | D>G | No |
ClinGen gnomAD |
|
|
CA387621811 rs1477075769 |
96 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6924772 rs779228823 |
97 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6924773 rs748113527 |
98 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6924774 rs758520406 |
100 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6924776 rs745870998 |
103 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA247194736 rs1020736816 |
107 | Q>E | No |
ClinGen TOPMed |
|
|
rs1329337378 CA387621905 |
109 | Q>R | No |
ClinGen gnomAD |
|
|
COSM946376 rs1182804369 CA387621942 |
114 | K>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs373736425 CA6924777 |
115 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387621959 rs200246981 |
117 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6924778 rs200246981 |
117 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367882739 COSM184067 CA247194760 |
118 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
rs768125939 CA6924780 |
132 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs201409351 CA6924782 |
133 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1198227708 CA387622089 |
136 | I>N | No |
ClinGen gnomAD |
|
|
CA6924784 rs142839529 |
136 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1254244205 CA387622102 |
138 | T>I | No |
ClinGen TOPMed |
|
|
CA387622115 rs1479068034 |
140 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA247194817 rs1022701303 |
140 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6924785 rs761219941 |
141 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs959327497 CA247197159 |
144 | K>Q | No |
ClinGen gnomAD |
|
|
CA247197164 rs991095590 |
144 | K>R | No |
ClinGen Ensembl |
|
|
rs759808635 CA6924806 |
146 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194673162 CA387622251 |
147 | G>R | No |
ClinGen TOPMed |
|
|
rs749790441 CA247197173 |
150 | F>C | No |
ClinGen Ensembl |
|
| TCGA novel | 150 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387622300 rs375158703 COSM1747382 COSM1747383 |
151 | Y>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs375158703 CA6924807 |
151 | Y>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751620649 CA387622401 |
159 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764438227 CA387622393 |
159 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764438227 CA6924810 |
159 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216862679 CA387622427 |
162 | K>E | No |
ClinGen gnomAD |
|
|
rs531833157 CA6924812 |
165 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 165 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387622469 rs1257441986 |
165 | M>T | No |
ClinGen gnomAD |
|
|
CA6924813 rs201683994 |
166 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1411591271 CA387622494 |
167 | Q>R | No |
ClinGen gnomAD |
|
|
rs754697876 CA6924815 |
168 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1228198087 CA387622540 |
170 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 171 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593182365 CA387622582 |
173 | R>K | No |
ClinGen Ensembl |
|
|
CA6924816 rs778819000 |
175 | E>Q | No |
ClinGen ExAC |
|
|
CA387622673 rs1188042805 |
178 | R>H | No |
ClinGen gnomAD |
|
|
CA387622666 rs1471633236 |
178 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6924839 rs373950661 |
184 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373950661 CA387624152 |
184 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387624154 rs1383988945 |
184 | R>H | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs543599108 CA6924840 |
185 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387624177 rs956410728 CA247199964 |
186 | D>E | No |
ClinGen TOPMed |
|
|
CA387624194 rs1593184961 |
188 | T>N | No |
ClinGen Ensembl |
|
|
CA387624206 rs1368132107 |
189 | T>N | No |
ClinGen TOPMed |
|
|
CA6924841 rs756733732 |
190 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs377637097 CA6924842 |
190 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745398171 CA6924843 |
192 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA387624273 rs1215682525 |
196 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 197 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286650493 CA387624298 |
198 | A>V | No |
ClinGen gnomAD |
|
|
CA387624304 rs1486841654 |
199 | R>K | No |
ClinGen gnomAD |
|
|
rs770264821 COSM259024 CA6924844 |
202 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6924845 rs770264821 |
202 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6924846 rs749653652 |
202 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1024874869 CA247200032 |
204 | E>Q | No |
ClinGen Ensembl |
|
|
CA6924847 rs769209646 |
208 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA387624426 rs1425087799 |
209 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 210 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387624453 rs1378151579 |
212 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs774683647 CA6924848 |
212 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6924850 rs773304712 |
217 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455750669 CA387624535 |
218 | N>K | No |
ClinGen gnomAD |
|
|
CA6924853 rs139779405 CA6924851 |
220 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1292290390 CA387624553 |
220 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs143686087 CA6924854 |
223 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6924857 rs751195518 |
227 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6924859 rs371051370 |
228 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6924858 rs371051370 |
228 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA247200108 rs909294739 |
229 | S>T | No |
ClinGen Ensembl |
|
|
CA387624667 rs1348271293 |
230 | S>C | No |
ClinGen TOPMed |
|
|
rs867486697 CA247200121 |
231 | E>G | No |
ClinGen gnomAD |
|
|
CA6924862 rs780605060 COSM248312 |
231 | E>K | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA247200140 rs749851586 |
232 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749851586 CA6924864 |
232 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769119788 CA6924865 |
233 | S>P | No |
ClinGen ExAC |
|
|
rs940696441 CA247200149 |
236 | P>L | No |
ClinGen Ensembl |
|
|
rs935882432 CA247200153 |
237 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6924867 rs774806573 |
238 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs772271584 CA6924868 |
238 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6924866 rs774806573 |
238 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1042006058 CA247203729 |
240 | S>L | No |
ClinGen TOPMed |
|
|
rs1281746592 CA387625960 |
241 | H>P | No |
ClinGen gnomAD |
|
|
rs746768663 CA6924935 |
241 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6924937 rs372326099 |
243 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA247203766 rs201600004 |
244 | D>Y | No |
ClinGen 1000Genomes |
|
|
CA6924942 rs764492111 |
245 | V>G | No |
ClinGen ExAC gnomAD |
|
|
COSM184069 rs77613105 COSM3704581 CA6924941 |
245 | V>I | liver pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6924943 rs141403127 |
246 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs979813818 CA247203788 |
247 | D>N | No |
ClinGen Ensembl |
|
|
rs1311514149 CA387625997 |
248 | Y>H | No |
ClinGen TOPMed |
|
|
rs1165568695 CA387626009 |
249 | S>F | No |
ClinGen gnomAD |
|
|
CA387626005 rs1472391905 |
249 | S>P | No |
ClinGen gnomAD |
|
|
CA387626013 rs1593187923 |
250 | Y>S | No |
ClinGen Ensembl |
|
|
CA6924945 rs145774948 |
251 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387626020 rs1593187927 |
251 | P>S | No |
ClinGen Ensembl |
|
|
rs756288563 CA6924947 |
254 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs930323228 CA247203827 COSM550938 COSM1649045 |
255 | N>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs930323228 CA387626043 |
255 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387626042 rs1308000378 |
255 | N>Y | No |
ClinGen TOPMed |
|
|
CA247203828 rs751265263 |
256 | H>R | No |
ClinGen Ensembl |
|
|
rs780327256 CA6924948 |
259 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1331230957 CA387626067 |
259 | H>Y | No |
ClinGen gnomAD |
|
|
CA6924950 rs755143742 |
260 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1357424703 CA387626108 |
263 | V>M | No |
ClinGen gnomAD |
|
|
rs777568753 CA6924951 |
264 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA387626120 rs1593187989 |
264 | T>P | No |
ClinGen Ensembl |
|
|
rs1340392397 CA387626129 |
265 | P>A | No |
ClinGen gnomAD |
|
|
CA387626139 rs1197787636 |
265 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1340392397 CA387626133 |
265 | P>T | No |
ClinGen gnomAD |
|
|
rs371129679 CA6924954 |
267 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371129679 CA387626158 |
267 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769526879 CA6924956 |
268 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs762342891 CA6924958 |
272 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762342891 CA6924959 |
272 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387626254 rs374111218 |
275 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6924961 rs148532802 |
276 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA247203920 rs907771598 |
278 | A>T | No |
ClinGen TOPMed |
|
|
CA6924963 rs750747440 |
279 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015561852 CA247203926 |
280 | Q>H | No |
ClinGen TOPMed |
|
|
rs944591770 CA247203932 |
281 | A>G | No |
ClinGen Ensembl |
|
|
rs770387834 COSM1366138 CA6924965 |
282 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs779105400 CA6924968 |
284 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1229833591 CA387626356 |
284 | H>L | No |
ClinGen gnomAD |
|
|
rs146594472 CA6924970 |
287 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387626395 rs1346848045 |
287 | R>W | No |
ClinGen gnomAD |
|
|
CA247204011 rs201998328 |
289 | P>L | No |
ClinGen 1000Genomes |
|
|
CA387626441 rs1487299412 |
291 | A>V | No |
ClinGen gnomAD |
|
|
COSM171865 CA6924973 rs547630336 |
292 | S>L | large_intestine Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6924972 rs745605331 |
292 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6924975 rs749030517 |
293 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454104588 CA387626476 |
295 | H>P | No |
ClinGen gnomAD |
|
|
CA387626482 rs1208062928 |
295 | H>Q | No |
ClinGen gnomAD |
|
|
rs1000182668 CA247204041 |
295 | H>Y | No |
ClinGen TOPMed |
|
|
CA247204058 rs201949686 |
296 | M>V | No |
ClinGen gnomAD |
|
|
rs768209814 CA6924976 |
297 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1236369158 CA387626505 |
297 | A>V | No |
ClinGen TOPMed |
|
|
rs1593188162 CA387626540 |
300 | R>S | No |
ClinGen Ensembl |
|
|
rs773846722 CA6924977 |
301 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA387626573 rs1288827730 |
303 | Q>R | No |
ClinGen gnomAD |
|
|
rs761344808 CA6924978 |
304 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387626597 rs773757357 |
305 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773757357 CA6924985 |
305 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773757357 CA387626598 |
305 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529756888 CA6924984 |
305 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556251328 CA6924987 |
306 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387626615 rs752781175 |
307 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs145147553 CA6924992 |
307 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145147553 CA6924994 |
307 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
TCGA novel rs756173793 |
307 | P>R | Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6924993 rs145147553 |
307 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752781175 CA6924991 |
307 | P>T | No |
ClinGen ExAC gnomAD |
|
| rs756173793 | 308 | P>A | Variant assessed as Somatic; 9.777e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251977344 CA387626642 |
309 | P>L | No |
ClinGen gnomAD |
|
|
rs151322145 CA6924998 RCV000957292 |
310 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs539301981 CA247204232 |
310 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1417727448 CA387626661 |
311 | Q>R | No |
ClinGen gnomAD |
|
|
rs1158990612 CA387626672 |
312 | A>D | No |
ClinGen gnomAD |
|
|
CA387626671 rs1358281314 |
312 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 314 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364916525 CA387626690 |
314 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1593188298 CA387626717 |
316 | S>A | No |
ClinGen Ensembl |
|
|
CA6925001 rs771610548 |
316 | S>F | No |
ClinGen ExAC |
|
|
CA6925002 rs773704053 |
317 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6925003 rs747571625 |
319 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1393846157 CA387626759 |
320 | A>V | No |
ClinGen gnomAD |
|
|
rs1469916998 CA387626765 |
321 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs374961765 CA247204256 |
321 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1469916998 CA387626766 |
321 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6925005 rs776985612 |
322 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA387626772 rs1340419576 |
322 | M>L | No |
ClinGen TOPMed |
|
| TCGA novel | 323 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374360461 CA387626801 |
324 | P>L | No |
ClinGen gnomAD |
|
|
rs1432581689 CA387626808 |
325 | A>T | No |
ClinGen gnomAD |
|
|
rs1046231066 CA247204329 |
325 | A>V | No |
ClinGen TOPMed |
|
|
COSM3955490 COSM3955491 rs1307614544 CA387626837 |
327 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA387626845 rs1242534142 |
328 | G>R | No |
ClinGen gnomAD |
|
|
CA387626978 rs757976789 |
330 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6925036 rs757976789 |
330 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1349006024 CA387626989 |
332 | A>P | No |
ClinGen TOPMed |
|
|
CA6925038 COSM946380 COSM3772788 rs746475574 |
332 | A>V | Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781699495 CA6925040 |
335 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746423588 CA6925041 |
336 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6925042 rs770441031 |
337 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs780502159 CA6925043 |
338 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs749704370 CA6925044 |
340 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201580275 CA6925047 CA6925046 |
342 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772111610 CA6925051 |
344 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387627071 rs1566075194 |
345 | P>S | No |
ClinGen Ensembl |
|
|
COSM1128389 CA6925053 rs759410889 |
346 | P>L | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs776617036 CA6925052 |
346 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs371835977 CA6925056 |
347 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA247206071 rs371835977 |
347 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469125711 CA387627079 |
347 | P>S | No |
ClinGen TOPMed |
|
|
rs138554713 CA387627087 |
348 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6925058 rs138554713 |
348 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593189560 CA387627086 |
348 | P>S | No |
ClinGen Ensembl |
|
|
CA6925061 rs756781551 |
349 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6925062 rs756781551 |
349 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6925060 rs751207028 |
349 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6925065 rs780730832 |
350 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6925064 rs756652899 |
350 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 351 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749649553 CA6925066 |
352 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs868190180 CA247206138 |
353 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 356 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200041610 CA247206143 |
356 | Q>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs994489788 CA247206162 |
357 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6925068 rs545535299 |
360 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772351726 CA6925070 |
361 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 361 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467261938 CA387627193 |
366 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA387627194 rs1467261938 |
366 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773097468 CA6925071 |
367 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387627210 rs1395410515 |
368 | Q>R | No |
ClinGen gnomAD |
|
|
rs147802301 CA6925073 |
370 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs147802301 CA6925072 |
370 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6925075 rs762701268 |
372 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1160586201 CA387627237 |
373 | A>T | No |
ClinGen gnomAD |
|
|
CA6925077 COSM222266 rs372445710 |
377 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs761308925 CA6925078 |
378 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1320283822 CA387627274 |
379 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs755735864 CA6925081 |
380 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs755735864 CA6925082 |
380 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000887937 CA6925083 rs141305774 |
381 | A>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA387627295 rs1566075323 |
382 | P>L | No |
ClinGen Ensembl |
|
|
rs755382170 CA6925084 |
383 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867358561 CA247206277 |
383 | P>S | No |
ClinGen Ensembl |
|
|
CA247206319 rs779088457 |
384 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593189733 CA387627302 |
384 | H>R | No |
ClinGen Ensembl |
|
|
rs779088457 CA6925085 |
384 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6925086 rs201909672 |
385 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1180746663 CA387627316 |
386 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1180746663 CA387627315 |
386 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs758507444 CA6925087 |
387 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA387627327 rs1453111430 |
388 | T>I | No |
ClinGen gnomAD |
|
|
CA387627322 rs1593189753 |
388 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 389 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387627329 CA6925088 rs531238022 |
389 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 390 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387627333 rs1327573418 |
390 | L>I | No |
ClinGen TOPMed |
|
|
rs1461455724 CA387627348 |
392 | V>A | No |
ClinGen TOPMed |
|
|
CA387627354 rs550889628 |
393 | T>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA247206358 rs550889628 |
393 | T>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6925089 rs747066323 |
395 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387627371 rs1460512751 |
396 | P>L | No |
ClinGen gnomAD |
|
|
CA6925092 rs533446357 |
397 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6925091 rs368805302 |
397 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373519573 CA6925093 |
398 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1407418450 CA387627378 |
398 | P>S | No |
ClinGen gnomAD |
|
|
CA387627376 rs1407418450 |
398 | P>T | No |
ClinGen gnomAD |
|
|
CA6925094 rs773979263 |
399 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387627393 rs1353617217 |
401 | P>A | No |
ClinGen gnomAD |
|
|
CA387627397 rs1206781196 |
401 | P>L | No |
ClinGen TOPMed |
|
|
CA6925096 rs767056498 |
402 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1566075445 CA387627408 |
403 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA387627414 rs1358667246 |
404 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387627417 rs1271979889 |
405 | P>S | No |
ClinGen gnomAD |
|
|
CA247206425 rs200895522 |
406 | G>A | No |
ClinGen Ensembl |
|
|
CA247206424 rs199665707 |
406 | G>R | No |
ClinGen Ensembl |
|
|
rs1441218720 CA387627440 |
409 | G>D | No |
ClinGen TOPMed |
|
|
rs201601591 CA6925100 |
409 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441218720 CA387627442 |
409 | G>V | No |
ClinGen TOPMed |
|
|
rs755373486 CA6925101 |
410 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752953513 CA6925103 CA6925104 |
411 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs75449992 CA387627452 |
412 | S>A | No |
ClinGen Ensembl |
|
|
CA247206460 rs75449992 |
412 | S>P | No |
ClinGen Ensembl |
|
|
rs1188113552 CA387627464 |
414 | L>V | No |
ClinGen gnomAD |
|
|
VAR_052953 rs17084492 CA6925105 |
415 | S>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1419402808 CA387627470 |
415 | S>P | No |
ClinGen gnomAD |
|
|
rs757312416 CA6925108 |
416 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757312416 CA6925107 |
416 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310386651 CA387627482 |
417 | S>F | No |
ClinGen gnomAD |
|
|
CA6925109 rs376555572 |
419 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593189942 CA387627500 |
420 | H>Y | No |
ClinGen Ensembl |
|
|
CA6925111 rs369688226 |
422 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369688226 CA6925112 |
422 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387627519 rs1339796008 |
423 | P>Q | No |
ClinGen gnomAD |
|
|
rs1269884432 CA387627516 |
423 | P>T | No |
ClinGen gnomAD |
|
|
rs771971361 CA6925113 |
424 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs756035934 CA247206507 |
425 | A>G | No |
ClinGen Ensembl |
|
|
CA387627540 rs1179025576 |
427 | A>T | No |
ClinGen TOPMed |
|
|
CA6925114 rs772986602 |
427 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373084396 CA6925115 |
429 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191996867 CA387627553 |
429 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387627578 rs1593190013 |
432 | P>L | No |
ClinGen Ensembl |
|
|
rs1170812921 CA387627579 |
433 | A>T | No |
ClinGen gnomAD |
|
|
CA247206540 rs972767527 |
435 | P>A | No |
ClinGen gnomAD |
|
|
CA387627594 rs972767527 |
435 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 435 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6925118 RCV000893805 rs138080902 |
437 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA387627630 rs1380646530 |
440 | A>G | No |
ClinGen gnomAD |
|
|
CA387627634 rs1373430487 |
441 | R>Q | No |
ClinGen TOPMed |
|
|
CA6925120 rs753284994 |
442 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300895386 CA387627644 |
443 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs764496907 CA6925122 |
446 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6925123 rs751929750 |
447 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs781416805 CA6925125 |
448 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1465923845 CA387627680 |
449 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6925143 COSM84211 rs767698868 |
452 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 457 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6925144 rs149628167 |
461 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387627778 rs1269927215 |
461 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387627797 rs1226700307 |
464 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6925147 rs753869140 |
466 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458930935 CA387627815 |
466 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748043020 CA6925149 |
467 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1366143 CA6925148 rs758369538 |
467 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs745588246 CA6925153 |
470 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387627838 rs745588246 |
470 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6925152 rs139628904 |
470 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 472 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 473 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775028272 COSM946382 CA6925155 |
476 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs774882598 CA6925158 |
480 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1223316181 CA387627897 |
480 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6925159 rs762162577 |
481 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3704582 CA6925160 COSM1606966 rs767928183 |
481 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs762162577 CA387627900 |
481 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387627911 rs1323523357 |
483 | A>T | No |
ClinGen TOPMed |
|
|
rs1179470680 CA387627917 |
484 | V>M | No |
ClinGen Ensembl |
|
|
rs1185970254 CA387627925 |
485 | E>* | No |
ClinGen gnomAD |
|
|
CA247209000 rs879649540 |
486 | Y>N | No |
ClinGen TOPMed |
|
| TCGA novel | 488 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753903578 CA6925164 |
488 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA387627972 rs374283071 |
491 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6925166 rs764090846 |
491 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387627974 COSM326867 rs1292057978 |
492 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1293055183 CA387627990 |
494 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA387628004 rs1227239955 |
496 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780981067 CA6925169 COSM946383 |
497 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs998700219 CA247209146 |
499 | D>N | No |
ClinGen gnomAD |
|
|
rs755745237 CA6925171 |
501 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6925173 COSM432255 rs538866473 |
502 | D>N | lung Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
No associated diseases with Q9UPY6
1 regional properties for Q9UPY6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Pleckstrin homology domain | 716 - 820 | IPR001849 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| glial cell projection | A prolongation or process extending from a glial cell. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| 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. |
| postsynapse | The part of a synapse that is part of the post-synaptic cell. |
| SCAR complex | A pentameric complex that includes orthologues of human PIR121, Nap1, Abi, SCAR, and HSPC300 and regulates actin polymerization and/or depolymerization through small GTPase mediated signal transduction. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| Arp2/3 complex binding | Binding to an Arp2/3 complex, a protein complex that contains two actin-related proteins, Arp2 and Arp3, and five novel proteins (ARPC1-5). |
| protein kinase A regulatory subunit binding | Binding to one or both of the regulatory subunits of protein kinase A. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| actin filament polymerization | Assembly of actin filaments by the addition of actin monomers to a filament. |
| cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
| lamellipodium assembly | Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
| modification of postsynaptic actin cytoskeleton | Any process that modifies the structure of a postsynaptic actin cytoskeleton. |
| oligodendrocyte development | The process aimed at the progression of an oligodendrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An oligodendrocyte is a type of glial cell involved in myelinating the axons in the central nervous system. |
| positive regulation of Arp2/3 complex-mediated actin nucleation | Any process that activates or increases the frequency, rate or extent of Arp2/3 complex-mediated actin nucleation. |
| positive regulation of myelination | Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLVKRNIEP | RHLCRGALPE | GITSELECVT | NSTLAAIIRQ | LSSLSKHAED | IFGELFNEAN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NFYIRANSLQ | DRIDRLAVKV | TQLDSTVEEV | SLQDINMKKA | FKSSTVQDQQ | VVSKNSIPNP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VADIYNQSDK | PPPLNILTPY | RDDKKDGLKF | YTDPSYFFDL | WKEKMLQDTE | DKRKEKRRQK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EQKRIDGTTR | EVKKVRKARN | RRQEWNMMAY | DKELRPDNRL | SQSVYHGASS | EGSLSPDTRS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HASDVTDYSY | PATPNHSLHP | QPVTPSYAAG | DVPPHGPASQ | AAEHEYRPPS | ASARHMALNR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PQQPPPPPPP | QAPEGSQASA | PMAPADYGML | PAQIIEYYNP | SGPPPPPPPP | VIPSAQTAFV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SPLQMPMQPP | FPASASSTHA | APPHPPSTGL | LVTAPPPPGP | PPPPPGPPGP | GSSLSSSPMH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GPPVAEAKRQ | EPAQPPISDA | RSDLLAAIRM | GIQLKKVQEQ | REQEAKREPV | GNDVATILSR |
| 490 | 500 | ||||
| RIAVEYSDSD | DDSEFDENDW | SD |