Q5VSL9
PR
Gene name |
STRIP1 (FAM40A, KIAA1761) |
Protein name |
Striatin-interacting protein 1 |
Names |
Protein FAM40A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:85369 |
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
2 structures for Q5VSL9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7K36 | EM | 330 A | I | 1-837 | PDB |
| AF-Q5VSL9-F1 | Predicted | AlphaFoldDB |
577 variants for Q5VSL9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA341574750 rs1426965813 |
2 | E>D | No |
ClinGen gnomAD |
|
|
CA341574755 rs773264962 |
3 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA996680 rs773264962 |
3 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1161987842 CA341574753 |
3 | P>S | No |
ClinGen gnomAD |
|
|
CA341574767 rs1359998981 |
5 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1316020557 CA341574770 |
6 | G>R | No |
ClinGen gnomAD |
|
|
CA341574778 rs1314187933 |
7 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1314187933 CA341574777 |
7 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1243502382 CA341574774 |
7 | G>S | No |
ClinGen gnomAD |
|
|
CA341574787 rs1258854630 |
8 | P>L | No |
ClinGen gnomAD |
|
|
rs1217914475 CA341574785 |
8 | P>S | No |
ClinGen gnomAD |
|
|
CA341574782 rs1217914475 |
8 | P>T | No |
ClinGen gnomAD |
|
|
rs1244601926 CA341574795 |
9 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA341574792 rs1203685649 |
9 | G>R | No |
ClinGen gnomAD |
|
|
CA996682 rs770561705 |
10 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1182579516 CA341574804 |
10 | P>L | No |
ClinGen gnomAD |
|
|
CA341574800 rs770561705 |
10 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs759100551 CA996684 |
11 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA28760799 rs574938927 |
12 | I>T | No |
ClinGen 1000Genomes |
|
|
CA341574829 rs1343898268 |
13 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1453160096 CA341574859 |
15 | N>S | No |
ClinGen gnomAD |
|
|
rs1300203859 CA341574865 |
16 | K>E | No |
ClinGen TOPMed |
|
|
rs1570909495 CA341574891 |
18 | P>R | No |
ClinGen Ensembl |
|
|
CA28760830 rs951251061 |
18 | P>S | No |
ClinGen Ensembl |
|
|
rs1336287307 CA341574915 |
20 | P>L | No |
ClinGen gnomAD |
|
|
CA341574910 rs1450791419 |
20 | P>S | No |
ClinGen gnomAD |
|
|
rs1373825382 CA341574926 |
21 | P>L | No |
ClinGen gnomAD |
|
|
rs764749204 CA996686 |
24 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1017945615 CA28760850 |
24 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1316204874 CA341574959 |
25 | P>L | No |
ClinGen gnomAD |
|
|
CA341574958 rs1316204874 |
25 | P>Q | No |
ClinGen gnomAD |
|
|
rs962429659 CA28760866 |
25 | P>S | No |
ClinGen TOPMed |
|
|
rs1224045462 CA341574969 |
26 | P>A | No |
ClinGen gnomAD |
|
|
rs1459571498 CA341574981 |
27 | A>P | No |
ClinGen gnomAD |
|
|
rs1202680256 CA341574989 |
27 | A>V | No |
ClinGen gnomAD |
|
|
CA28760876 rs1003971327 |
29 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1481176894 CA341575015 |
30 | Q>E | No |
ClinGen gnomAD |
|
|
CA341575046 rs1179260976 |
32 | P>L | No |
ClinGen gnomAD |
|
|
CA341575059 rs1472588415 |
34 | G>R | No |
ClinGen gnomAD |
|
|
rs1431593005 CA341575078 |
35 | A>V | No |
ClinGen gnomAD |
|
|
CA341575091 rs1570909603 |
37 | R>W | No |
ClinGen Ensembl |
|
|
CA341575103 rs1354195719 |
38 | A>G | No |
ClinGen TOPMed |
|
|
CA341575104 rs1283486719 |
39 | A>T | No |
ClinGen TOPMed |
|
|
CA28760908 rs1024756460 |
41 | G>C | No |
ClinGen TOPMed |
|
|
rs970660163 CA28760912 |
41 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341575158 rs1398377824 |
44 | P>L | No |
ClinGen TOPMed |
|
|
rs1444119904 CA341575186 |
48 | A>D | No |
ClinGen gnomAD |
|
|
rs1324591871 CA341575197 |
49 | R>H | No |
ClinGen TOPMed |
|
|
rs1389240139 CA341575206 |
50 | E>* | No |
ClinGen TOPMed |
|
|
rs762144036 CA996689 |
50 | E>A | No |
ClinGen ExAC |
|
|
CA996690 rs542853573 |
52 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341575250 rs1372323464 |
53 | R>L | No |
ClinGen gnomAD |
|
|
rs1570909673 CA341575281 |
56 | R>C | No |
ClinGen Ensembl |
|
|
rs1164749460 CA341575305 |
58 | D>G | No |
ClinGen TOPMed |
|
|
rs769394836 CA996705 |
62 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA341564027 rs753224708 |
63 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA996706 rs753224708 |
63 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 64 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762658503 CA996707 |
66 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1570913337 CA341564081 |
71 | E>G | No |
ClinGen Ensembl |
|
|
CA996708 rs377701271 COSM1241149 |
75 | T>A | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs773504048 CA996709 |
77 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA996710 rs761048079 |
78 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 78 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA996712 rs754405291 |
83 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370979346 CA996711 |
83 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341564460 rs1468594085 |
85 | L>F | No |
ClinGen gnomAD |
|
|
CA28716869 rs1025811191 |
89 | T>M | No |
ClinGen Ensembl |
|
|
rs747859134 CA996746 |
92 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA28716891 rs919023510 |
93 | E>K | No |
ClinGen TOPMed |
|
|
CA28716894 rs1024053027 |
94 | F>L | No |
ClinGen Ensembl |
|
|
rs1336110582 CA341564578 |
98 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs771198067 CA996747 |
98 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA996748 rs776991794 |
100 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA996749 rs776991794 |
100 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770287106 CA996750 |
104 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1330050146 CA341564632 |
105 | F>L | No |
ClinGen gnomAD |
|
|
rs370160295 CA341564634 |
106 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201090045 CA996752 |
106 | R>Q | Variant assessed as Somatic; 9.242e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs370160295 CA996751 |
106 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341564648 rs1165478002 |
108 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 109 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766046772 CA28717423 |
109 | V>G | No |
ClinGen Ensembl |
|
|
rs1016084719 CA28717427 |
113 | K>R | No |
ClinGen TOPMed |
|
|
rs776119249 CA996769 |
115 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341564838 rs1214131159 |
115 | T>I | No |
ClinGen Ensembl |
|
|
rs143256444 CA996770 |
117 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA28717445 rs913040146 |
118 | D>G | No |
ClinGen TOPMed |
|
|
CA996771 rs769289412 |
118 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs139091016 CA996772 |
119 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113710728 CA996773 |
120 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570914996 CA341564883 |
122 | H>R | No |
ClinGen Ensembl |
|
|
rs372370356 CA996775 |
123 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA996776 rs376682849 |
123 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA996774 rs372370356 |
123 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368475939 CA996777 |
124 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341564898 rs1363196947 |
125 | H>R | No |
ClinGen TOPMed |
|
|
CA341564904 rs1165367900 |
126 | A>S | No |
ClinGen TOPMed |
|
|
CA341564923 rs1168422674 |
128 | R>S | No |
ClinGen gnomAD |
|
|
CA996779 rs753773988 |
129 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs754846462 CA996780 |
135 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA996781 rs778838867 |
137 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372334086 COSM1497819 CA996782 |
138 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs757879228 CA996783 |
143 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777452838 CA996784 |
144 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs755216445 CA28717589 |
146 | R>G | No |
ClinGen Ensembl |
|
|
rs1461050141 CA341565034 |
146 | R>Q | No |
ClinGen TOPMed |
|
|
CA996785 rs746691062 |
147 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA341565042 rs1248868573 |
148 | I>V | No |
ClinGen TOPMed |
|
|
rs756540865 CA996787 |
150 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756540865 CA341565057 |
150 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143942454 CA996788 |
152 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749684004 CA996789 |
153 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA341565098 rs1311928896 |
155 | T>A | No |
ClinGen gnomAD |
|
|
rs148067545 CA996803 |
155 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1265751620 CA341565110 |
157 | G>R | No |
ClinGen gnomAD |
|
|
rs749629079 CA996806 |
158 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1203942168 CA341565118 |
158 | E>A | No |
ClinGen gnomAD |
|
|
rs1244550694 CA341565124 |
159 | C>R | No |
ClinGen gnomAD |
|
|
CA341565135 rs1223607326 |
160 | S>T | No |
ClinGen TOPMed |
|
|
CA996807 rs118092780 |
161 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA996811 rs773101784 |
162 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA996809 rs748659308 |
162 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA996810 rs748659308 |
162 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341565167 rs1570915343 |
165 | V>G | No |
ClinGen Ensembl |
|
|
CA341565173 rs1293622047 |
166 | Q>R | No |
ClinGen Ensembl |
|
|
CA996812 rs747107278 |
167 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs759296560 CA996815 |
170 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765066156 CA996816 |
170 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs765066156 CA341565203 |
170 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs146504207 CA996817 |
171 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762730931 CA996818 |
173 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764104349 CA996819 |
176 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1051695931 CA28717816 |
176 | L>H | No |
ClinGen TOPMed |
|
|
rs1286341833 CA341565244 |
177 | L>V | No |
ClinGen gnomAD |
|
|
CA996820 rs750983776 |
178 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA341565258 rs1302437819 |
179 | V>A | No |
ClinGen TOPMed |
|
|
CA28717822 rs911093831 |
179 | V>M | No |
ClinGen Ensembl |
|
|
CA996821 rs756585894 |
181 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1264616896 CA341565270 |
181 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341565283 rs147025127 |
183 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147025127 CA996823 |
183 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169687482 CA341565286 |
184 | A>T | No |
ClinGen TOPMed |
|
|
rs779209539 CA996825 |
186 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs758776652 CA996827 |
191 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1200312962 CA341565364 |
191 | M>V | No |
ClinGen gnomAD |
|
|
rs1413031403 CA341565380 |
192 | E>K | No |
ClinGen gnomAD |
|
|
rs1175590986 CA341565397 |
193 | I>V | No |
ClinGen gnomAD |
|
|
rs1441594118 CA341565566 |
194 | D>E | No |
ClinGen gnomAD |
|
|
rs772793799 CA341565650 |
198 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA996859 COSM893607 rs772793799 |
198 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA996860 rs760257728 |
199 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA996861 rs765911738 |
200 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570916926 CA341565706 |
201 | S>I | No |
ClinGen Ensembl |
|
|
rs753572106 CA996862 |
202 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs763206047 CA996863 |
206 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA996865 rs752059029 |
208 | I>M | No |
ClinGen ExAC |
|
|
rs764579475 CA996864 |
208 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA996866 rs757696601 |
209 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341565967 rs1437882215 |
213 | S>G | No |
ClinGen TOPMed |
|
|
rs750460487 CA28718878 |
214 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA996868 rs750460487 |
214 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1251988811 CA341566031 |
215 | D>N | No |
ClinGen TOPMed |
|
|
rs1306618222 CA341566061 |
216 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs779302233 CA996896 |
217 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA341566938 rs1190086417 |
219 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341566947 rs1557790054 |
220 | L>P | No |
ClinGen Ensembl |
|
|
CA341566969 rs1487570228 |
223 | M>I | No |
ClinGen TOPMed |
|
|
CA996900 rs747025828 |
223 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996385795 CA28719582 |
226 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA996901 rs770343744 |
226 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358072599 CA341567006 |
229 | T>A | No |
ClinGen TOPMed |
|
|
CA996903 rs200637648 |
230 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1307867691 CA341567032 |
233 | E>* | No |
ClinGen TOPMed |
|
|
CA996904 rs769394430 |
233 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28719598 rs1027826553 |
234 | C>R | No |
ClinGen Ensembl |
|
|
rs1390075183 CA341567053 |
236 | G>S | No |
ClinGen gnomAD |
|
|
CA341567061 rs1436136206 |
237 | D>N | No |
ClinGen gnomAD |
|
|
CA341567064 rs1557790137 |
237 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 238 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341567071 rs1322766439 |
238 | K>R | No |
ClinGen gnomAD |
|
|
rs952287904 CA28719599 |
243 | T>A | No |
ClinGen TOPMed |
|
|
rs775162490 CA996905 |
244 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA28719617 rs766532551 |
245 | R>Q | No |
ClinGen Ensembl |
|
|
rs762142372 CA996906 |
245 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1161691723 CA341567153 |
247 | T>I | No |
ClinGen TOPMed |
|
|
rs773584384 CA996908 |
249 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs761173535 CA996909 |
249 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs754383228 CA996911 |
251 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA996929 rs760966929 |
253 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA341567321 rs760966929 |
253 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA341567331 rs1484416853 |
254 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA996930 rs771431613 |
255 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765475019 CA996933 |
257 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752963249 CA996934 |
258 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs146210829 CA341567414 |
259 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146210829 CA996935 |
259 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1464304483 CA341567478 |
262 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs923573675 CA28719778 |
263 | A>S | No |
ClinGen Ensembl |
|
|
CA996937 rs751322617 |
264 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3801219 rs781165742 CA996939 |
265 | M>I | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1197525348 CA341567543 |
265 | M>T | No |
ClinGen TOPMed |
|
|
CA996938 rs757040072 |
265 | M>V | No |
ClinGen ExAC TOPMed |
|
|
rs755613448 CA996941 |
269 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA996942 rs779472272 |
271 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28719803 rs900685601 |
273 | F>L | No |
ClinGen Ensembl |
|
|
rs996333410 CA28719821 |
278 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs372140390 CA996945 |
279 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753699475 CA28719822 |
280 | H>Q | No |
ClinGen Ensembl |
|
|
rs1273203281 CA341567886 |
281 | F>L | No |
ClinGen TOPMed |
|
|
CA341567897 rs1483702693 |
282 | P>R | No |
ClinGen gnomAD |
|
|
rs1192007075 CA341567983 |
286 | V>I | No |
ClinGen gnomAD |
|
|
rs1049215077 CA28719824 |
287 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs777182211 CA996948 |
291 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs201975986 CA996949 |
292 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778606874 CA341568405 |
296 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA341568381 rs1423546369 |
296 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778606874 CA996963 |
296 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA341568428 rs1186518003 |
297 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA996966 rs781349614 |
300 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746252196 CA996967 |
303 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA341568656 rs1159449463 |
306 | S>G | No |
ClinGen gnomAD |
|
|
CA341568698 rs1322465684 |
307 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770379452 CA996968 |
307 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341568883 rs1557791216 |
312 | R>C | No |
ClinGen Ensembl |
|
|
CA996969 rs776174401 |
312 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA996970 rs749354105 |
315 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326178531 CA341569350 |
317 | L>F | No |
ClinGen gnomAD |
|
|
CA341569354 rs1570919717 |
317 | L>P | No |
ClinGen Ensembl |
|
|
CA341569364 rs1286416655 |
318 | P>S | No |
ClinGen gnomAD |
|
|
CA341569382 rs909954074 |
319 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341569380 rs909954074 |
319 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA28720952 rs909954074 |
319 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA996974 rs373405644 |
319 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341569437 rs1207036383 |
323 | D>E | No |
ClinGen gnomAD |
|
|
rs939857286 CA28720957 |
324 | S>N | No |
ClinGen TOPMed |
|
|
CA341569469 rs1442749974 |
328 | I>T | No |
ClinGen gnomAD |
|
|
rs760492305 CA996977 |
328 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA341569473 rs1212180875 |
329 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs766271423 CA996978 |
329 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs766271423 CA341569476 |
329 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA341569478 rs1474836980 |
330 | N>D | No |
ClinGen gnomAD |
|
|
CA341569496 rs1570919819 |
331 | M>R | No |
ClinGen Ensembl |
|
|
CA996979 rs753823317 |
335 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1363492616 CA341569616 |
339 | S>T | No |
ClinGen TOPMed |
|
|
CA996980 rs754499110 |
340 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs764720929 CA996981 |
341 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415340135 CA341569680 |
342 | D>V | No |
ClinGen gnomAD |
|
|
rs1325355271 CA341569731 |
344 | I>T | No |
ClinGen TOPMed |
|
|
CA28721020 rs879195306 |
349 | K>N | No |
ClinGen Ensembl |
|
|
rs947598442 CA28721036 |
350 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341569874 rs947598442 |
350 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA996986 rs754481166 |
350 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA996987 rs780691814 |
351 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs746536861 CA28721045 |
352 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA996989 rs769206899 |
353 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1220801949 COSM893608 CA341569932 |
353 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341569972 rs1276226244 |
355 | H>R | No |
ClinGen gnomAD |
|
|
CA341570014 rs1205746094 |
356 | K>N | No |
ClinGen gnomAD |
|
|
rs1324679066 CA341570195 |
357 | A>G | No |
ClinGen gnomAD |
|
|
rs199976658 CA28721475 |
363 | N>S | No |
ClinGen TOPMed |
|
|
CA341570374 rs1388133125 |
365 | D>G | No |
ClinGen gnomAD |
|
|
CA997016 rs200373879 |
366 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA997019 rs763761224 |
370 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA997018 rs762351041 |
370 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 374 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751115577 CA997020 |
378 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA341570624 rs1557791687 |
379 | R>G | No |
ClinGen Ensembl |
|
|
COSM423415 CA341570626 rs1468324429 |
379 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341570737 rs1296361702 |
384 | E>G | No |
ClinGen TOPMed |
|
|
rs111920837 CA28721511 |
385 | N>D | No |
ClinGen Ensembl |
|
|
rs1250262724 CA341570756 |
385 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761495434 CA997024 |
386 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs761495434 CA997025 |
386 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA341570797 rs1288718767 |
387 | D>V | No |
ClinGen TOPMed |
|
|
rs754111230 CA997026 |
389 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA997027 rs376135440 |
389 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA997028 rs146631809 |
390 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341570861 rs146631809 |
390 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA997029 rs753307430 |
391 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1557791747 CA341570918 |
393 | G>E | No |
ClinGen Ensembl |
|
|
rs1194652834 CA341570915 |
393 | G>W | No |
ClinGen TOPMed |
|
|
rs747105130 CA997032 |
395 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28721549 rs867431299 |
397 | P>L | No |
ClinGen Ensembl |
|
|
CA997034 rs781512083 |
397 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA28721569 rs745622488 |
398 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1210171149 CA341571042 |
400 | R>Q | No |
ClinGen gnomAD |
|
|
rs200485650 CA997036 |
400 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371636182 CA28721593 |
404 | M>I | No |
ClinGen ESP TOPMed |
|
|
CA997037 rs775282645 |
407 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775282645 CA341571108 |
407 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371099476 CA28721658 |
409 | Q>R | No |
ClinGen ESP |
|
|
rs773945942 CA997041 |
410 | H>P | No |
ClinGen ExAC |
|
|
CA28721669 rs201299982 |
413 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 416 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759804557 CA997045 |
420 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA997046 rs765701364 |
421 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244165944 CA341571346 |
422 | L>F | No |
ClinGen gnomAD |
|
|
CA341571361 rs1311786491 |
424 | W>* | No |
ClinGen gnomAD |
|
|
rs751602765 CA997050 |
425 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1229877052 CA341571399 |
427 | K>R | No |
ClinGen gnomAD |
|
|
rs746523484 CA997083 |
433 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422943170 CA341571670 |
435 | M>I | No |
ClinGen TOPMed |
|
|
rs770579161 CA997084 |
435 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341571709 rs1557792412 |
437 | L>P | No |
ClinGen Ensembl |
|
|
CA997085 rs147040945 |
437 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341571787 rs1458125978 |
440 | S>T | No |
ClinGen gnomAD |
|
|
CA997087 rs769069324 |
441 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557792444 CA341571913 |
444 | F>C | No |
ClinGen Ensembl |
|
|
rs569587037 CA28722605 |
445 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs569587037 CA28722604 |
445 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 446 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 446 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439083113 CA341571994 |
448 | T>A | No |
ClinGen gnomAD |
|
|
CA28722629 rs890065036 |
449 | L>V | No |
ClinGen Ensembl |
|
|
CA28722631 rs1007067601 |
451 | S>C | No |
ClinGen TOPMed |
|
|
CA997109 COSM1332534 rs527621579 |
453 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA341572176 rs527621579 |
453 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1268560275 CA341572251 |
457 | V>L | No |
ClinGen gnomAD |
|
|
rs1483221827 CA341572341 |
462 | P>A | No |
ClinGen gnomAD |
|
|
rs537741656 CA28722877 |
463 | I>V | No |
ClinGen Ensembl |
|
|
CA997113 rs765581193 |
465 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1373556738 CA341572438 |
467 | I>N | No |
ClinGen TOPMed |
|
|
rs758169480 CA997115 |
468 | K>R | No |
ClinGen ExAC |
|
|
rs751513487 CA997117 |
469 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1386653584 CA341572510 |
470 | L>P | No |
ClinGen TOPMed |
|
|
rs570730772 CA997118 |
471 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA997119 rs780617828 |
472 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs573458045 CA341573085 |
474 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA28724395 rs573458045 |
474 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1176229557 CA341573120 |
475 | Y>* | No |
ClinGen TOPMed |
|
|
rs1409317819 CA341573108 |
475 | Y>D | No |
ClinGen TOPMed |
|
|
CA997133 rs182365138 |
476 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 477 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA997136 rs757134349 |
479 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034248773 CA28724416 |
479 | A>V | No |
ClinGen Ensembl |
|
|
CA341573214 rs1374989834 |
481 | V>L | No |
ClinGen gnomAD |
|
|
CA997137 rs767469884 |
482 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 484 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA997139 rs755666930 |
485 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA341573340 rs1570924228 |
489 | Y>S | No |
ClinGen Ensembl |
|
|
CA341573357 rs1278782722 |
490 | L>F | No |
ClinGen gnomAD |
|
|
CA997140 rs756888470 |
491 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA997141 COSM280990 rs146229969 |
491 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341573374 rs146229969 |
491 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA997142 rs754664027 |
493 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1223414883 CA341573403 |
494 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 495 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA997145 rs747424231 |
496 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1407481468 CA341574054 |
497 | G>E | No |
ClinGen TOPMed |
|
|
CA341574051 rs1441858652 |
497 | G>R | No |
ClinGen TOPMed |
|
|
CA341574057 rs1570925371 |
498 | E>K | No |
ClinGen Ensembl |
|
|
rs1336559383 CA341574066 |
499 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs781762020 CA997167 CA997168 |
500 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA997166 rs757746270 |
500 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA341574078 rs1468281941 |
501 | V>I | No |
ClinGen gnomAD |
|
|
rs1264559934 CA341574097 |
503 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA997169 rs150518731 |
506 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1445757605 CA341574116 |
506 | A>V | No |
ClinGen gnomAD |
|
|
rs367681219 CA997170 |
508 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1405594511 CA341574132 |
509 | L>F | No |
ClinGen TOPMed |
|
|
rs774680771 CA997173 |
510 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 511 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1026721346 CA28725290 |
511 | Q>K | No |
ClinGen TOPMed |
|
|
CA341574154 rs1425691718 |
512 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761579686 CA997174 |
513 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1416910507 CA341574172 |
515 | P>R | No |
ClinGen gnomAD |
|
|
rs1290410509 CA341574177 |
516 | S>N | No |
ClinGen gnomAD |
|
|
CA341574187 rs1460068156 |
518 | P>A | No |
ClinGen TOPMed |
|
|
CA997177 rs760547629 |
519 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28725331 rs981934382 |
521 | M>T | No |
ClinGen TOPMed |
|
|
rs1296031699 CA341574266 |
527 | I>M | No |
ClinGen gnomAD |
|
|
CA341574275 rs1304607862 |
529 | L>S | No |
ClinGen gnomAD |
|
|
rs1373894515 CA341574284 |
530 | A>V | No |
ClinGen gnomAD |
|
|
rs1300716409 CA341574288 |
531 | A>E | No |
ClinGen gnomAD |
|
|
rs1308106686 CA341574293 |
532 | A>T | No |
ClinGen gnomAD |
|
|
rs900779865 CA28725468 |
534 | T>I | No |
ClinGen gnomAD |
|
|
CA28725473 rs79362102 |
535 | S>* | No |
ClinGen Ensembl |
|
|
CA28725470 rs868281052 |
535 | S>P | No |
ClinGen Ensembl |
|
|
CA341574320 rs1214147300 |
537 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341574330 rs1452532391 |
538 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs144157128 CA997198 |
541 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1419629061 CA341574354 |
542 | I>V | No |
ClinGen gnomAD |
|
|
CA28725516 rs536415295 |
546 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA997199 rs536415295 |
546 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775147531 CA341574385 |
547 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs775147531 CA997201 |
547 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1373603198 CA341574391 |
548 | V>I | No |
ClinGen TOPMed |
|
|
CA341574435 rs1439370636 |
553 | M>I | No |
ClinGen gnomAD |
|
|
COSM1332537 rs763865677 CA997203 |
554 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA341574458 rs1213509457 |
555 | T>I | No |
ClinGen gnomAD |
|
|
CA997222 rs774200840 |
558 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs533860427 CA997221 |
558 | L>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760940524 CA997223 COSM893609 |
559 | Q>E | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA997224 rs766696400 |
559 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA341574483 rs1570927304 |
560 | S>G | No |
ClinGen Ensembl |
|
|
CA341574511 rs1570927308 |
563 | L>R | No |
ClinGen Ensembl |
|
|
rs1409120327 CA341574517 |
564 | G>E | No |
ClinGen gnomAD |
|
|
rs1157318093 CA341574528 |
566 | D>G | No |
ClinGen gnomAD |
|
|
CA341574524 rs1203682262 |
566 | D>N | No |
ClinGen TOPMed |
|
|
rs1570927334 CA341574541 |
568 | N>T | No |
ClinGen Ensembl |
|
|
rs755462390 CA997226 |
569 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs888742692 CA341574574 |
572 | E>D | No |
ClinGen Ensembl |
|
|
rs765763931 CA997227 |
575 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752741941 CA997228 |
577 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447531924 CA341574605 |
577 | A>V | No |
ClinGen gnomAD |
|
|
CA341574623 rs1222019633 |
580 | A>V | No |
ClinGen gnomAD |
|
|
CA997231 rs747324222 |
581 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 583 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28726577 rs867307815 |
583 | L>M | No |
ClinGen gnomAD |
|
|
CA997234 rs780985289 |
589 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA997235 rs780985289 |
589 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 594 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775614100 CA997237 |
594 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA997238 rs748790762 |
595 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA341574721 rs1380288098 |
596 | Q>* | No |
ClinGen gnomAD |
|
|
CA341574811 rs1462019519 |
597 | F>L | No |
ClinGen TOPMed |
|
|
CA997272 rs775837761 |
600 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA341574845 rs1194059734 |
600 | M>V | No |
ClinGen gnomAD |
|
|
rs1170163599 CA341574992 |
608 | N>S | No |
ClinGen gnomAD |
|
|
rs1462878120 CA341575003 |
609 | C>R | No |
ClinGen gnomAD |
|
|
rs1462878120 CA341575005 |
609 | C>S | No |
ClinGen gnomAD |
|
|
rs376700162 CA997275 |
613 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1034880515 CA28726805 |
618 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341575226 rs1319751309 |
621 | I>V | No |
ClinGen gnomAD |
|
|
CA341575255 rs1293457091 |
622 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA997277 rs767761446 |
622 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs368746194 CA997279 |
625 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| VAR_076430 | 628 | K>N | No | UniProt | |
|
rs960400662 CA28726811 |
628 | K>R | No |
ClinGen TOPMed |
|
|
rs199569148 CA997299 |
632 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341575393 rs199569148 |
632 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255231952 CA341575394 |
633 | V>I | No |
ClinGen gnomAD |
|
|
CA997301 rs377193110 |
634 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341575407 rs1438984901 |
635 | D>G | No |
ClinGen gnomAD |
|
|
rs753654308 CA997302 |
635 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918681640 CA28727370 |
639 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA997305 rs752644683 |
640 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28727390 rs752644683 |
640 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341575444 rs1214339823 |
641 | V>M | No |
ClinGen TOPMed |
|
|
CA341575466 rs1396758567 |
644 | L>M | No |
ClinGen gnomAD |
|
|
rs1348711077 CA341575475 |
645 | P>L | No |
ClinGen TOPMed |
|
|
CA997307 rs147921530 |
646 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3849205 CA997308 rs369214170 |
648 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs951419785 CA28727874 |
653 | E>K | No |
ClinGen TOPMed |
|
|
CA997324 rs201161880 |
654 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201161880 CA997325 |
654 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1570929276 CA341575545 |
654 | A>V | No |
ClinGen Ensembl |
|
|
rs756813439 CA997326 |
655 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA997327 rs780814042 |
655 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1165212349 CA341575552 |
656 | D>N | No |
ClinGen TOPMed |
|
|
CA341575591 rs1300653482 |
661 | C>R | No |
ClinGen gnomAD |
|
|
CA341575597 rs1308344698 |
661 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA341575604 rs1557796576 |
662 | W>* | No |
ClinGen Ensembl |
|
|
CA341575609 rs1220653564 |
663 | R>K | No |
ClinGen gnomAD |
|
|
CA997329 rs755800425 |
664 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214084971 CA341575628 |
666 | F>L | No |
ClinGen gnomAD |
|
|
rs1248438995 CA341575631 |
666 | F>S | No |
ClinGen gnomAD |
|
|
rs772425953 CA997332 |
667 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA997331 rs748574620 |
667 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA997333 rs778472173 |
668 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA28727899 rs988483675 |
669 | I>T | No |
ClinGen Ensembl |
|
|
CA997334 rs376850167 |
669 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547443433 CA997335 |
670 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776856348 COSM1332540 CA997336 |
673 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA28727929 rs955605074 |
676 | N>S | No |
ClinGen TOPMed |
|
|
CA28727926 rs866779946 |
676 | N>Y | No |
ClinGen Ensembl |
|
|
rs770078632 CA997338 |
677 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA28727958 rs987354394 |
678 | L>V | No |
ClinGen Ensembl |
|
|
CA341575707 rs1352169781 |
679 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 684 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781075128 CA28727986 |
687 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 688 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415579284 CA341576317 |
689 | L>V | No |
ClinGen gnomAD |
|
|
CA28730099 rs185345162 |
694 | S>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA341576530 rs1227675909 |
698 | L>W | No |
ClinGen gnomAD |
|
| TCGA novel | 700 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341576570 rs1355751029 |
700 | R>Q | No |
ClinGen gnomAD |
|
|
rs747585120 CA997352 |
700 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341576576 rs771550765 |
701 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA997353 rs771550765 |
701 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1020771142 CA28730130 |
702 | L>I | No |
ClinGen TOPMed |
|
|
rs1340481953 CA341576692 |
707 | A>P | No |
ClinGen TOPMed |
|
|
rs1340481953 CA341576689 |
707 | A>T | No |
ClinGen TOPMed |
|
|
CA997354 rs781468997 |
708 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA341576785 rs1238813444 |
709 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA341576805 rs1239597162 |
710 | Q>H | No |
ClinGen gnomAD |
|
|
CA997355 rs190105639 |
711 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341576836 rs1181639455 |
712 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs954509221 CA28730152 |
713 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341576951 rs1359923422 |
718 | K>E | No |
ClinGen gnomAD |
|
|
rs768369612 CA997359 |
726 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341577128 rs1357639562 |
726 | R>W | No |
ClinGen gnomAD |
|
|
rs1279898992 CA341577197 |
729 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 729 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341577228 rs1172297779 |
730 | K>N | No |
ClinGen gnomAD |
|
|
CA28730174 rs987425722 |
731 | S>G | No |
ClinGen TOPMed |
|
|
CA341577250 rs1423690711 |
731 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA28730181 rs375880563 |
733 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs774122881 CA997360 |
736 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1165883322 CA341577375 |
736 | M>T | No |
ClinGen TOPMed |
|
|
rs1307929680 CA341577368 |
736 | M>V | No |
ClinGen gnomAD |
|
|
CA997361 rs761792043 |
738 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1570930364 CA341577471 |
740 | Y>S | No |
ClinGen Ensembl |
|
|
CA341577492 rs1172257642 |
741 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 741 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA997362 rs767414666 |
741 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 743 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28730183 rs151049813 |
744 | R>Q | No |
ClinGen ESP |
|
|
CA341577565 rs1557797200 COSM1491636 |
744 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1378097932 CA341577605 |
746 | R>W | No |
ClinGen TOPMed |
|
|
rs182737587 CA997365 |
748 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA997366 rs753464894 |
749 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1251433167 CA341577688 |
750 | D>N | No |
ClinGen TOPMed |
|
|
rs1332411589 CA341577788 |
754 | G>D | No |
ClinGen gnomAD |
|
|
rs1018452297 CA28730266 |
754 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 758 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28731752 rs996855838 |
759 | A>T | No |
ClinGen TOPMed |
|
|
CA341578566 COSM893612 rs1322135198 |
760 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA341578564 rs1217228638 |
760 | R>W | No |
ClinGen gnomAD |
|
|
rs749338775 CA997393 |
761 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1251085256 CA341578570 |
761 | P>S | No |
ClinGen gnomAD |
|
|
CA341578584 rs1212110318 |
762 | W>* | No |
ClinGen gnomAD |
|
|
rs1455258848 CA341578619 |
765 | Q>E | No |
ClinGen TOPMed |
|
|
CA341578645 rs1387658044 |
767 | E>G | No |
ClinGen TOPMed |
|
|
rs199706652 CA28731766 |
768 | E>K | No |
ClinGen Ensembl |
|
|
CA28731773 rs552527776 |
769 | C>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1265696420 CA341578681 |
770 | A>V | No |
ClinGen gnomAD |
|
|
CA997395 rs779061306 |
771 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA341578684 rs1192701558 |
771 | L>V | No |
ClinGen gnomAD |
|
|
rs372274310 CA997396 |
772 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA28731805 rs990499820 |
774 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA341578713 rs1021985503 |
774 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1021985503 CA28731814 |
774 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341578724 rs1358287703 |
775 | I>T | No |
ClinGen gnomAD |
|
|
rs984716933 CA28731817 |
775 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201952755 CA997401 |
780 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359338958 CA341578789 |
781 | R>Q | No |
ClinGen gnomAD |
|
|
CA997402 rs759075344 |
781 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA997403 rs765002232 |
782 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA28731876 rs138761681 |
782 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA28731883 rs978660875 |
783 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA997404 rs775223188 |
783 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs762270029 COSM893613 CA997405 |
785 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
COSM1206339 CA28731890 rs890263495 |
785 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1425397610 CA341578831 |
786 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 786 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs944916416 CA341578840 |
787 | H>N | No |
ClinGen TOPMed |
|
|
rs976100383 CA28731909 |
787 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs944916416 CA28731904 |
787 | H>Y | No |
ClinGen TOPMed |
|
|
CA341578853 rs1432480458 COSM1637819 |
788 | S>N | bone [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA341578857 rs1363965244 |
788 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 790 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341578882 rs1326374612 |
790 | P>L | No |
ClinGen TOPMed |
|
|
CA341578874 rs1440213119 |
790 | P>T | No |
ClinGen gnomAD |
|
|
rs1570932273 CA341578890 |
791 | D>A | No |
ClinGen Ensembl |
|
|
CA341578907 rs1159955584 |
792 | F>L | No |
ClinGen gnomAD |
|
|
rs1388269340 CA341578925 |
795 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 795 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750736017 CA997407 |
797 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA341578959 rs1462371890 |
800 | Q>R | No |
ClinGen TOPMed |
|
|
CA997411 rs142485792 |
806 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA997410 rs753939511 |
806 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265631053 CA341579022 |
810 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 812 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341579046 rs1311567061 |
813 | F>S | No |
ClinGen gnomAD |
|
|
rs1351531191 CA341579057 |
814 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 816 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779112754 CA997412 |
816 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA997413 rs752984955 |
817 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341579090 rs1198568079 |
819 | L>V | No |
ClinGen gnomAD |
|
|
CA997416 rs148203764 |
828 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770930977 CA997417 |
830 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA28732010 rs887858660 |
830 | I>M | No |
ClinGen Ensembl |
|
| TCGA novel | 834 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 835 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341579293 rs1322578047 |
837 | Q>* | No |
ClinGen TOPMed |
No associated diseases with Q5VSL9
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| small GTPase binding | Binding to a small monomeric GTPase. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cortical 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 actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane. |
| 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. |
| regulation of cell morphogenesis | Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P53917 | FAR11 | Factor arrest protein 11 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q0P5J8 | STRIP1 | Striatin-interacting protein 1 | Bos taurus (Bovine) | PR |
| Q9ULQ0 | STRIP2 | Striatin-interacting protein 2 | Homo sapiens (Human) | PR |
| Q8C9H6 | Strip2 | Striatin-interacting proteins 2 | Mus musculus (Mouse) | PR |
| Q8C079 | Strip1 | Striatin-interacting protein 1 | Mus musculus (Mouse) | PR |
| Q803T2 | strip1 | Striatin-interacting protein 1 homolog | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPAVGGPGP | LIVNNKQPQP | PPPPPPAAAQ | PPPGAPRAAA | GLLPGGKARE | FNRNQRKDSE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GYSESPDLEF | EYADTDKWAA | ELSELYSYTE | GPEFLMNRKC | FEEDFRIHVT | DKKWTELDTN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QHRTHAMRLL | DGLEVTAREK | RLKVARAILY | VAQGTFGECS | SEAEVQSWMR | YNIFLLLEVG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TFNALVELLN | MEIDNSAACS | SAVRKPAISL | ADSTDLRVLL | NIMYLIVETV | HQECEGDKAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WRTMRQTFRA | ELGSPLYNNE | PFAIMLFGMV | TKFCSGHAPH | FPMKKVLLLL | WKTVLCTLGG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FEELQSMKAE | KRSILGLPPL | PEDSIKVIRN | MRAASPPASA | SDLIEQQQKR | GRREHKALIK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QDNLDAFNER | DPYKADDSRE | EEEENDDDNS | LEGETFPLER | DEVMPPPLQH | PQTDRLTCPK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GLPWAPKVRE | KDIEMFLESS | RSKFIGYTLG | SDTNTVVGLP | RPIHESIKTL | KQHKYTSIAE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VQAQMEEEYL | RSPLSGGEEE | VEQVPAETLY | QGLLPSLPQY | MIALLKILLA | AAPTSKAKTD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SINILADVLP | EEMPTTVLQS | MKLGVDVNRH | KEVIVKAISA | VLLLLLKHFK | LNHVYQFEYM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AQHLVFANCI | PLILKFFNQN | IMSYITAKNS | ISVLDYPHCV | VHELPELTAE | SLEAGDSNQF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CWRNLFSCIN | LLRILNKLTK | WKHSRTMMLV | VFKSAPILKR | ALKVKQAMMQ | LYVLKLLKVQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TKYLGRQWRK | SNMKTMSAIY | QKVRHRLNDD | WAYGNDLDAR | PWDFQAEECA | LRANIERFNA |
| 790 | 800 | 810 | 820 | 830 | |
| RRYDRAHSNP | DFLPVDNCLQ | SVLGQRVDLP | EDFQMNYDLW | LEREVFSKPI | SWEELLQ |