A6NI28
PR
Gene name |
ARHGAP42 |
Protein name |
Rho GTPase-activating protein 42 |
Names |
Rho GTPase-activating protein 10-like, Rho-type GTPase-activating protein 42 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:143872 |
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 A6NI28
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6NI28-F1 | Predicted | AlphaFoldDB |
452 variants for A6NI28
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6243006 rs749189564 |
5 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382481399 rs1251968374 |
14 | D>G | No |
ClinGen gnomAD |
|
|
rs1265996644 CA382481421 |
17 | D>V | No |
ClinGen TOPMed |
|
|
rs902581972 CA228160862 |
24 | C>S | No |
ClinGen gnomAD |
|
|
rs778929849 CA6243008 |
26 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA382481492 rs1285809003 |
27 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382481521 rs1277167355 |
31 | R>Q | No |
ClinGen TOPMed |
|
|
CA228160864 rs1041474113 |
34 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 36 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1054048701 CA228160866 |
38 | E>K | No |
ClinGen TOPMed |
|
|
rs1372189292 CA382481590 |
41 | K>E | No |
ClinGen gnomAD |
|
|
CA228160868 rs1023506461 |
43 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA382481613 rs1194645365 |
44 | S>C | No |
ClinGen TOPMed |
|
|
CA382481614 rs1194645365 |
44 | S>F | No |
ClinGen TOPMed |
|
|
CA382481619 rs1272010169 |
45 | L>R | No |
ClinGen gnomAD |
|
|
CA382481628 rs1215178867 |
47 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA228160870 rs1012498540 |
47 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs982342413 CA228160872 |
49 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs982342413 CA228160871 |
49 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs993880307 CA228169905 |
55 | M>I | No |
ClinGen gnomAD |
|
|
CA382481691 rs1262294161 |
55 | M>V | No |
ClinGen gnomAD |
|
|
CA228169906 rs1001775242 |
56 | A>T | No |
ClinGen TOPMed |
|
|
CA382481723 rs1027051371 |
59 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA382481772 rs1474261110 |
66 | D>E | No |
ClinGen gnomAD |
|
|
rs760331146 CA228169909 |
66 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1591166657 CA382481824 |
73 | G>D | No |
ClinGen Ensembl |
|
|
CA382481831 rs1190216791 |
74 | D>A | No |
ClinGen gnomAD |
|
|
rs1414767708 CA382481838 |
75 | A>D | No |
ClinGen gnomAD |
|
|
rs1414767708 CA382481839 |
75 | A>G | No |
ClinGen gnomAD |
|
|
CA382481900 rs549147609 |
83 | I>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA382481898 rs1418756680 |
83 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1213066656 CA382481918 |
84 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382481932 rs1238133470 |
86 | S>L | No |
ClinGen gnomAD |
|
|
rs377763591 CA382481974 |
92 | R>S | No |
ClinGen ESP gnomAD |
|
|
rs757058820 CA6243028 |
95 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs771950840 CA228172705 |
96 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778649242 CA6243029 |
97 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750442678 CA6243030 |
100 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1463262103 CA382482032 |
102 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA228172706 rs1049706895 |
102 | R>Q | Variant assessed as Somatic; 6.636e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs768948348 CA6243034 |
105 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs187482748 CA228179936 |
105 | I>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1439741906 CA382486564 |
106 | Q>E | No |
ClinGen gnomAD |
|
|
rs962405525 CA228179937 |
108 | A>S | No |
ClinGen gnomAD |
|
|
CA382486579 rs962405525 |
108 | A>T | No |
ClinGen gnomAD |
|
|
rs918047089 CA228179938 |
110 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6243038 rs773574454 |
114 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382486619 rs773574454 |
114 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 120 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382486662 rs1271579472 |
120 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA382486692 rs1470097663 |
124 | I>T | No |
ClinGen gnomAD |
|
|
CA382486699 rs1200085770 |
125 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1445723261 CA382482646 |
131 | K>R | No |
ClinGen gnomAD |
|
|
CA382482656 CA382482655 rs774943869 |
132 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382482694 rs1300273473 |
137 | E>A | No |
ClinGen gnomAD |
|
|
CA382482739 rs1474580110 |
143 | S>A | No |
ClinGen gnomAD |
|
|
rs543217961 CA228186356 |
143 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA382482746 rs1419516740 |
144 | I>T | No |
ClinGen gnomAD |
|
|
rs1157721890 CA382482749 |
145 | L>I | No |
ClinGen gnomAD |
|
|
CA382482802 rs1402298711 |
152 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA382482809 rs1414214802 |
153 | A>G | No |
ClinGen gnomAD |
|
|
rs761509166 CA6243047 |
153 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228186358 rs761509166 |
153 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291550847 CA382482815 |
154 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439216062 CA382482893 |
163 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA228187215 rs1035000182 |
167 | I>S | No |
ClinGen TOPMed |
|
|
rs961604185 CA228187214 |
167 | I>V | No |
ClinGen Ensembl |
|
|
CA6243060 rs530338405 |
168 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382482927 rs1367262487 |
168 | D>Y | No |
ClinGen TOPMed |
|
|
CA228187216 rs895131590 |
169 | R>G | No |
ClinGen TOPMed |
|
|
CA382482934 rs1452432158 |
169 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs749979796 CA228187217 |
175 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs774854009 CA6243061 |
175 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA382482991 rs1466600834 |
177 | A>T | No |
ClinGen gnomAD |
|
|
CA382483026 rs1477359127 |
182 | V>I | No |
ClinGen TOPMed |
|
|
rs543699747 CA228187218 |
186 | Q>E | No |
ClinGen Ensembl |
|
|
rs1449287957 CA382483068 |
187 | E>D | No |
ClinGen gnomAD |
|
|
CA382483062 rs1167435455 |
187 | E>K | No |
ClinGen gnomAD |
|
|
rs1012241145 CA228187219 |
188 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1439246825 CA382483083 |
190 | E>K | No |
ClinGen gnomAD |
|
|
CA382483091 rs1304012807 |
191 | K>Q | No |
ClinGen gnomAD |
|
|
CA6243062 rs760113834 |
192 | K>R | No |
ClinGen ExAC |
|
|
CA228187221 rs968111966 |
196 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382483132 rs1487436500 |
196 | F>Y | No |
ClinGen TOPMed |
|
|
CA228187222 rs978189627 |
197 | V>I | No |
ClinGen TOPMed |
|
|
rs1031603521 CA228187223 |
199 | P>L | No |
ClinGen TOPMed |
|
|
rs924465813 CA227485500 |
204 | L>F | No |
ClinGen TOPMed |
|
|
CA382430733 rs1286589421 |
208 | F>L | No |
ClinGen TOPMed |
|
|
rs1226883286 CA382430759 |
211 | Y>C | No |
ClinGen TOPMed |
|
|
CA227485531 rs934583636 |
217 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA227485547 rs757366322 |
222 | A>T | No |
ClinGen Ensembl |
|
|
rs997621292 CA227485548 |
223 | P>L | No |
ClinGen gnomAD |
|
|
rs1435118099 CA382430904 |
231 | N>S | No |
ClinGen TOPMed |
|
|
rs1313063305 CA382430958 |
237 | N>S | No |
ClinGen gnomAD |
|
|
CA382431001 rs1407203711 |
243 | R>* | No |
ClinGen TOPMed |
|
|
CA382431006 rs1236664750 |
244 | Q>E | No |
ClinGen gnomAD |
|
|
rs1288048289 CA382431017 |
245 | E>G | No |
ClinGen gnomAD |
|
|
CA6243076 rs372092861 |
247 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382431027 rs1488588923 |
247 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1488588923 CA382431028 |
247 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6243077 rs749610645 |
248 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1565284108 CA382431035 |
248 | R>W | No |
ClinGen Ensembl |
|
|
rs1275733474 CA382431047 |
250 | M>L | No |
ClinGen Ensembl |
|
| TCGA novel | 252 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382431063 rs1482364999 |
252 | R>W | No |
ClinGen gnomAD |
|
|
CA382431082 rs1188548254 |
254 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA227486961 rs957185710 |
256 | A>D | No |
ClinGen Ensembl |
|
|
CA382431093 rs1189845195 |
256 | A>P | No |
ClinGen TOPMed |
|
|
CA227486967 rs926464739 |
259 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6243078 rs535808984 |
261 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382431135 rs1262842434 |
262 | P>A | No |
ClinGen gnomAD |
|
|
CA6243080 rs374533080 |
263 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6243081 rs759739984 |
264 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227486997 rs767768364 |
265 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs369738648 CA227487005 |
267 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1372218351 CA382431174 |
268 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382431186 rs1389410475 |
269 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1435949258 CA382431202 |
271 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs973969058 CA227487027 |
271 | Y>C | No |
ClinGen TOPMed |
|
|
CA382431220 rs1354242644 |
274 | V>A | No |
ClinGen gnomAD |
|
|
CA382431241 rs1276589887 |
277 | K>T | No |
ClinGen TOPMed |
|
|
rs1051769738 CA227487037 |
278 | R>* | No |
ClinGen TOPMed |
|
|
rs1289332931 CA382431265 |
279 | P>S | No |
ClinGen TOPMed |
|
|
rs1369696385 CA382431271 |
280 | L>F | No |
ClinGen gnomAD |
|
|
CA382431269 rs1369696385 |
280 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 282 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382431290 rs1347013680 |
283 | T>A | No |
ClinGen TOPMed |
|
|
rs200448659 CA6243090 |
287 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1424258366 CA382431347 |
290 | T>I | No |
ClinGen TOPMed |
|
|
rs1310572509 CA382431362 |
292 | D>E | No |
ClinGen gnomAD |
|
|
rs1260312526 CA382431376 |
294 | G>A | No |
ClinGen gnomAD |
|
|
rs1386156902 CA382431372 |
294 | G>R | No |
ClinGen TOPMed |
|
|
CA382431413 rs1458472666 |
299 | T>K | No |
ClinGen gnomAD |
|
|
CA227490479 rs974555681 |
305 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs949426040 CA227490483 |
307 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA382431468 rs1245439896 |
307 | S>P | No |
ClinGen gnomAD |
|
|
rs766288692 CA227490486 |
308 | S>R | No |
ClinGen Ensembl |
|
|
rs1191201470 CA382431482 |
309 | G>E | No |
ClinGen gnomAD |
|
|
CA6243095 rs757606430 |
312 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757606430 CA382431519 |
312 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927616203 CA227491628 |
313 | G>D | No |
ClinGen TOPMed |
|
|
CA6243097 rs746263248 |
314 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755444433 CA227491638 |
317 | S>G | No |
ClinGen gnomAD |
|
|
rs993076496 CA227491646 |
317 | S>R | No |
ClinGen TOPMed |
|
|
rs1161188111 CA382431554 |
318 | S>L | No |
ClinGen gnomAD |
|
|
CA227491650 rs990506383 |
318 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs183993732 CA227491653 |
319 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA382431557 rs1417768893 |
319 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs970396181 CA227491654 |
321 | M>V | No |
ClinGen TOPMed |
|
|
CA382431590 rs1358603455 |
323 | K>N | No |
ClinGen gnomAD |
|
|
CA382431603 rs1591312002 |
325 | K>R | No |
ClinGen Ensembl |
|
|
CA382431624 rs1300151924 |
328 | I>T | No |
ClinGen gnomAD |
|
|
rs371730002 CA6243099 |
328 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382431634 rs1188945601 |
330 | R>Q | No |
ClinGen TOPMed |
|
|
rs1282700244 CA382431646 |
332 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1282700244 CA382431647 |
332 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1355546983 CA382431656 |
333 | D>G | No |
ClinGen TOPMed |
|
|
CA382431651 rs1216928562 |
333 | D>N | No |
ClinGen TOPMed |
|
|
rs1229286775 CA382431684 |
337 | K>R | No |
ClinGen gnomAD |
|
|
rs1284153052 CA382431689 |
338 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1291669129 CA382431726 |
343 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382431732 rs1218111381 |
344 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs914147706 CA227494885 |
349 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1471807440 CA382431794 |
351 | I>F | No |
ClinGen TOPMed |
|
|
rs1441373980 CA382431831 |
356 | A>G | No |
ClinGen gnomAD |
|
|
rs1394445309 CA382431860 |
360 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382431866 rs1465585645 |
361 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 361 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382431873 rs1245419205 |
362 | R>M | No |
ClinGen gnomAD |
|
| TCGA novel | 364 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404563549 CA382431962 |
374 | P>L | No |
ClinGen gnomAD |
|
|
CA6243125 rs770663461 |
375 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA382431977 rs770663461 |
375 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 377 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6243126 rs778723810 |
377 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs17647207 CA6243128 |
380 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1275887539 CA382432021 |
382 | I>T | No |
ClinGen gnomAD |
|
|
rs775486582 CA6243129 |
382 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA382432032 rs1408101474 |
384 | K>Q | No |
ClinGen gnomAD |
|
|
rs934195901 CA227502008 |
389 | Y>C | No |
ClinGen TOPMed |
|
|
CA382432118 rs1352937943 |
393 | A>T | No |
ClinGen gnomAD |
|
|
CA382432139 rs1261145541 |
396 | N>T | No |
ClinGen gnomAD |
|
|
CA382432164 rs1313821565 |
399 | R>S | No |
ClinGen TOPMed |
|
|
rs764921312 CA227502059 |
402 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382432190 rs1187325904 |
403 | Q>P | No |
ClinGen gnomAD |
|
|
CA227502734 rs1045480960 |
409 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1177284150 CA382432253 |
411 | T>A | No |
ClinGen gnomAD |
|
|
rs927039528 CA227502740 |
417 | R>* | No |
ClinGen TOPMed |
|
|
rs937119771 CA227502742 |
418 | I>T | No |
ClinGen TOPMed |
|
|
CA6243148 rs746843175 |
422 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1400738460 CA382432333 |
424 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA227502751 rs969387997 |
428 | L>F | No |
ClinGen Ensembl |
|
|
CA227502756 rs1054336921 |
429 | M>V | No |
ClinGen TOPMed |
|
|
rs1174787424 CA382432395 |
432 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1357006919 CA382432397 |
433 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382432423 rs774534039 |
435 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399153908 CA382432426 |
435 | P>L | No |
ClinGen gnomAD |
|
|
rs774534039 CA6243156 |
435 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333156833 CA382432441 |
438 | P>S | No |
ClinGen gnomAD |
|
|
CA382432451 rs1364585061 |
439 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA227503419 rs542709875 |
440 | D>V | No |
ClinGen 1000Genomes |
|
|
CA227503440 rs1039662367 |
441 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs921436812 CA227503425 |
441 | I>V | No |
ClinGen TOPMed |
|
|
rs1221066724 CA382432476 |
443 | I>T | No |
ClinGen gnomAD |
|
|
rs767848023 CA6243158 |
443 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382432487 rs1284109157 |
445 | I>L | No |
ClinGen gnomAD |
|
|
rs931319245 CA227503456 |
447 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1166601063 CA382432521 |
449 | D>E | No |
ClinGen TOPMed |
|
|
rs763050517 CA227503508 |
452 | T>M | No |
ClinGen Ensembl |
|
| TCGA novel | 459 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs553189342 CA227504026 |
463 | C>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1193710077 CA382432625 |
463 | C>R | No |
ClinGen TOPMed |
|
|
CA382432642 rs1175597600 |
465 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1280408358 CA382432651 |
466 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1228157648 CA382432665 |
469 | M>L | No |
ClinGen gnomAD |
|
|
CA227504046 rs989678890 |
472 | K>T | No |
ClinGen Ensembl |
|
|
rs185460818 CA6243168 |
473 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 477 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1026340381 CA382432781 |
483 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA227506591 rs1026340381 |
483 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA382432783 rs1447706237 |
484 | D>Y | No |
ClinGen gnomAD |
|
|
rs771004146 CA6243174 |
485 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA227506620 rs950711702 |
486 | Q>R | No |
ClinGen TOPMed |
|
|
rs1393974952 CA382432810 |
487 | N>K | No |
ClinGen TOPMed |
|
|
rs1247326927 CA382432816 |
488 | Y>C | No |
ClinGen gnomAD |
|
|
CA382432814 rs1381901212 |
488 | Y>D | No |
ClinGen gnomAD |
|
|
CA382432827 rs930731678 |
490 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA227506631 rs930731678 |
490 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA227506653 rs1047883372 |
492 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 497 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 501 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441494601 CA382432912 |
502 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1238978404 CA382432932 |
505 | R>G | No |
ClinGen gnomAD |
|
|
CA6243177 rs546797348 |
510 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1184055912 CA382432971 |
510 | I>N | No |
ClinGen TOPMed |
|
|
rs1591327269 CA382432982 |
512 | I>V | No |
ClinGen Ensembl |
|
|
CA227506694 rs926189271 |
517 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754704064 CA6243186 |
518 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA382433068 rs1329974349 |
523 | Q>K | No |
ClinGen gnomAD |
|
|
CA6243187 rs376267724 |
524 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 528 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1015438851 CA227512557 |
530 | S>* | No |
ClinGen Ensembl |
|
|
CA6243188 rs747964012 |
531 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA227512579 rs960835175 |
535 | I>M | No |
ClinGen gnomAD |
|
|
rs1186799220 CA382433155 |
536 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 537 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382433180 rs1591332520 |
540 | L>V | No |
ClinGen Ensembl |
|
|
rs755992509 CA6243189 |
543 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227512612 rs992335276 |
544 | Q>R | No |
ClinGen Ensembl |
|
|
rs1196301618 CA382433314 |
550 | A>G | No |
ClinGen gnomAD |
|
|
rs1458021979 CA382433320 |
551 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1266635632 CA382433362 |
553 | N>S | No |
ClinGen gnomAD |
|
|
rs969667549 CA227512614 |
560 | V>A | No |
ClinGen Ensembl |
|
|
CA6243191 rs61998231 |
561 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs935732313 CA227512638 |
563 | I>N | No |
ClinGen Ensembl |
|
|
rs1271237018 CA382434072 |
563 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 564 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365208930 CA382434088 |
565 | I>M | No |
ClinGen TOPMed |
|
|
CA382434104 rs1170309825 |
567 | H>Q | No |
ClinGen gnomAD |
|
|
CA227512665 rs907835263 |
568 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA382434118 rs1463892084 |
569 | E>D | No |
ClinGen gnomAD |
|
|
CA382434150 rs1295937323 |
572 | F>S | No |
ClinGen gnomAD |
|
|
CA382434163 rs1382532914 |
574 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382434167 rs1311761860 |
574 | T>S | No |
ClinGen gnomAD |
|
|
CA382434171 rs1271917678 |
575 | A>S | No |
ClinGen TOPMed |
|
|
CA227513625 rs958949460 |
586 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs373458222 CA6243204 |
588 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6243205 rs767175528 |
589 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1591333419 CA382434261 |
589 | S>T | No |
ClinGen Ensembl |
|
|
CA6243206 rs752428899 |
592 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406644429 CA382434294 |
595 | R>* | No |
ClinGen TOPMed |
|
|
CA227513654 rs967464791 |
595 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs200771033 CA227513663 |
597 | I>T | No |
ClinGen TOPMed |
|
|
CA382434330 rs892602230 |
601 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1156336173 CA382434331 |
601 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA227513684 rs892602230 |
601 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1201923306 CA382434341 |
603 | S>P | No |
ClinGen Ensembl |
|
|
CA227513690 rs754628424 |
605 | K>N | No |
ClinGen Ensembl |
|
|
rs1301967022 CA382434356 |
605 | K>T | No |
ClinGen gnomAD |
|
|
CA382434368 rs1268579032 |
607 | R>K | No |
ClinGen Ensembl |
|
|
rs1399757865 CA382434373 |
608 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777687071 CA6243208 |
608 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA382434378 rs1315591808 |
609 | R>G | No |
ClinGen gnomAD |
|
|
rs1239436601 CA382434412 |
613 | C>W | No |
ClinGen gnomAD |
|
|
rs531602728 CA227513705 |
614 | L>V | No |
ClinGen 1000Genomes |
|
|
rs1250248101 CA382434423 |
616 | E>K | No |
ClinGen TOPMed |
|
|
rs1565302624 CA382434436 |
617 | P>H | No |
ClinGen Ensembl |
|
|
CA382434431 rs1216759722 |
617 | P>T | No |
ClinGen gnomAD |
|
|
CA382434439 rs1158640944 |
618 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 619 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382434462 rs1225658414 |
619 | S>N | No |
ClinGen gnomAD |
|
|
CA382434465 rs1264156097 |
620 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 626 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6243215 rs747372206 |
631 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs976656384 CA227514842 |
632 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1190163013 CA382434569 |
634 | I>T | No |
ClinGen gnomAD |
|
|
rs1042246990 CA227514849 |
634 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 635 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6243216 rs368996610 |
637 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1481222852 CA382434596 |
638 | S>F | No |
ClinGen gnomAD |
|
|
CA382434600 rs1591334710 |
639 | S>F | No |
ClinGen Ensembl |
|
|
CA382434607 rs1318275215 |
640 | H>R | No |
ClinGen TOPMed |
|
|
CA382434627 rs1336503778 |
643 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1422645589 CA382434631 |
644 | Q>K | No |
ClinGen gnomAD |
|
|
CA382434653 rs1408037482 |
646 | S>R | No |
ClinGen gnomAD |
|
|
CA227514867 rs922541218 |
649 | K>E | No |
ClinGen TOPMed |
|
|
CA382434696 rs1355062748 |
653 | C>F | No |
ClinGen gnomAD |
|
|
CA382434707 rs1442970593 |
654 | Q>H | No |
ClinGen gnomAD |
|
|
rs1300806536 CA382434713 |
655 | P>L | No |
ClinGen TOPMed |
|
|
CA382434737 rs1423390210 |
659 | S>T | No |
ClinGen TOPMed |
|
|
CA382434752 rs1293018367 |
661 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1343807485 CA382434758 |
662 | I>N | No |
ClinGen gnomAD |
|
|
CA382434788 rs1406991381 |
666 | A>G | No |
ClinGen gnomAD |
|
|
rs541047518 CA6243218 |
668 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1029656019 CA227514922 |
672 | N>D | No |
ClinGen gnomAD |
|
|
CA382434829 rs1194074873 |
673 | G>E | No |
ClinGen TOPMed |
|
|
rs1266670969 CA382434856 |
677 | L>F | No |
ClinGen TOPMed |
|
|
CA382434861 rs1308608559 |
677 | L>R | No |
ClinGen gnomAD |
|
|
CA382434880 rs773860824 |
680 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773860824 CA6243220 |
680 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199652671 CA382434892 |
682 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1199652671 CA382434891 |
682 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1262076299 CA382434898 |
683 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1262076299 CA382434896 |
683 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA382434920 rs1188081244 |
686 | S>L | No |
ClinGen gnomAD |
|
|
CA382434930 rs1591334848 |
688 | S>P | No |
ClinGen Ensembl |
|
|
CA227514947 rs759988260 |
690 | E>D | No |
ClinGen gnomAD |
|
|
CA382434954 rs1161656215 |
691 | D>A | No |
ClinGen gnomAD |
|
|
CA382434952 rs1404706946 |
691 | D>Y | No |
ClinGen gnomAD |
|
|
CA382434979 rs1264703564 |
693 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1270023373 CA382434991 |
694 | K>R | No |
ClinGen TOPMed |
|
|
CA382435016 rs1426681612 |
696 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA382435017 rs1426681612 |
696 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382435024 rs1281856864 |
697 | A>T | No |
ClinGen TOPMed |
|
|
rs767093715 CA6243222 |
697 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA382435061 rs1403831629 |
699 | S>L | No |
ClinGen TOPMed |
|
|
rs1349902011 CA382435077 |
700 | D>E | No |
ClinGen TOPMed |
|
|
rs752416715 CA382435085 |
701 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs752416715 CA6243223 |
701 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs888467044 CA227514972 |
703 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1591334936 CA382435143 |
705 | A>V | No |
ClinGen Ensembl |
|
|
rs1228250670 CA382435155 |
706 | S>L | No |
ClinGen gnomAD |
|
|
CA227514975 rs543493829 |
708 | T>I | No |
ClinGen 1000Genomes |
|
|
CA6243225 rs763930101 |
710 | P>Q | No |
ClinGen ExAC |
|
|
rs1360945442 CA382435197 |
710 | P>S | No |
ClinGen gnomAD |
|
|
CA227515029 rs897327695 |
713 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs897327695 CA382435234 |
713 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs569336 CA6243226 |
713 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6243227 rs529466797 |
714 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382435244 rs529466797 |
714 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382435252 rs1181657583 |
715 | P>L | No |
ClinGen gnomAD |
|
|
rs1387036831 CA382435273 |
717 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs549302202 CA382435297 |
719 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA227515043 rs1025896627 |
723 | E>G | No |
ClinGen Ensembl |
|
|
CA382435362 rs1188671437 |
724 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1384461618 CA382435371 |
725 | Y>H | No |
ClinGen gnomAD |
|
|
CA227515048 rs971680970 |
729 | G>E | No |
ClinGen gnomAD |
|
|
rs1346123033 CA382435449 |
733 | A>T | No |
ClinGen gnomAD |
|
|
CA382435483 rs1335251972 |
736 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382435498 rs1320399975 |
737 | S>F | No |
ClinGen TOPMed |
|
|
CA382435543 rs1245986817 |
741 | I>T | No |
ClinGen gnomAD |
|
|
CA382435552 rs1307914559 |
742 | S>F | No |
ClinGen gnomAD |
|
|
rs183901201 CA227515072 |
743 | A>T | No |
ClinGen 1000Genomes |
|
|
rs1347992890 CA382435583 |
745 | E>K | No |
ClinGen gnomAD |
|
|
rs1565303635 CA382435595 |
746 | G>R | No |
ClinGen Ensembl |
|
|
CA382435645 rs1217772727 |
746 | G>V | No |
ClinGen TOPMed |
|
|
CA382435670 rs1443768397 |
748 | K>R | No |
ClinGen gnomAD |
|
|
CA382435698 rs1322409130 |
750 | Y>C | No |
ClinGen gnomAD |
|
|
CA382435699 rs1322409130 |
750 | Y>F | No |
ClinGen gnomAD |
|
|
CA227515467 rs115045903 |
751 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6243234 rs115045903 |
751 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382435740 rs1264760005 |
754 | I>S | No |
ClinGen gnomAD |
|
|
rs955750040 CA227515470 |
754 | I>V | No |
ClinGen TOPMed |
|
|
rs1324096729 CA382435745 |
755 | Q>P | No |
ClinGen gnomAD |
|
|
CA382435746 rs1324096729 |
755 | Q>R | No |
ClinGen gnomAD |
|
|
CA382435753 rs1591335415 |
756 | S>N | No |
ClinGen Ensembl |
|
|
rs1565303840 CA382435750 |
756 | S>R | No |
ClinGen Ensembl |
|
|
rs1292993346 CA382435772 |
759 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 760 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458644883 CA382435778 |
760 | V>I | No |
ClinGen TOPMed |
|
|
rs1248388289 CA382435809 |
763 | K>E | No |
ClinGen gnomAD |
|
|
rs1184112317 CA382435816 |
764 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6243235 rs748479604 |
766 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6243236 rs770274923 |
766 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA227515493 rs990899997 |
770 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382435862 rs1431898482 |
771 | N>T | No |
ClinGen gnomAD |
|
|
rs773592951 CA6243237 |
772 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA382435875 rs1167794388 |
773 | D>A | No |
ClinGen gnomAD |
|
|
rs953906907 CA227515503 |
773 | D>E | No |
ClinGen TOPMed |
|
|
CA382435874 rs1425010077 |
773 | D>Y | No |
ClinGen TOPMed |
|
|
CA6243238 rs745381257 |
774 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6243240 rs775105422 |
776 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227515537 rs763686058 |
778 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243242 rs763686058 |
778 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962675099 CA227515562 |
781 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6243243 rs776438110 |
783 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA382435947 rs1387417397 |
784 | L>R | No |
ClinGen TOPMed |
|
|
rs1370021436 CA382435960 |
786 | T>S | No |
ClinGen TOPMed |
|
|
rs761529396 CA6243244 |
787 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs761529396 CA227515584 |
787 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1197569278 CA382435969 |
788 | S>* | No |
ClinGen gnomAD |
|
|
rs1490226225 CA382435993 |
791 | G>V | No |
ClinGen gnomAD |
|
|
CA382435998 rs371366286 |
792 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA227515597 rs371366286 |
792 | Y>F | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 792 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 793 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA227515599 rs184229553 |
794 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs923803690 CA227515598 |
794 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1468758903 CA382436022 |
796 | G>A | No |
ClinGen TOPMed |
|
|
rs939412084 CA227515601 |
797 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA227515620 rs1056475189 |
798 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6243245 rs778720455 |
798 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs753988120 CA227517271 |
800 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA382436403 rs1466122345 |
800 | A>V | No |
ClinGen gnomAD |
|
|
rs774941750 CA6243257 |
801 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1382620151 CA382436405 |
801 | A>T | No |
ClinGen gnomAD |
|
|
rs757542700 CA227517290 |
802 | K>E | No |
ClinGen gnomAD |
|
|
CA382436413 rs1202563153 |
802 | K>R | No |
ClinGen TOPMed |
|
|
CA382436417 rs1591337064 |
803 | A>T | No |
ClinGen Ensembl |
|
|
rs1591337070 CA382436422 |
803 | A>V | No |
ClinGen Ensembl |
|
|
rs1301855511 CA382436452 |
808 | N>D | No |
ClinGen gnomAD |
|
|
CA382436464 rs1399608629 |
809 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs374945217 CA227517291 |
809 | V>F | No |
ClinGen ESP TOPMed |
|
|
CA227517292 rs970856649 |
814 | P>A | No |
ClinGen TOPMed |
|
|
CA382436494 rs1317238498 |
814 | P>L | No |
ClinGen gnomAD |
|
|
rs538314873 CA227517297 |
816 | S>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs904495849 CA227517308 |
817 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA227517313 rs1000162137 |
819 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs367900224 CA6243258 |
819 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1000162137 CA227517311 |
819 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382436969 rs1565308792 |
824 | M>L | No |
ClinGen Ensembl |
|
|
CA382437011 rs1464819035 |
826 | S>P | No |
ClinGen gnomAD |
|
|
CA382437065 rs1259511336 |
829 | A>T | No |
ClinGen TOPMed |
|
|
CA382437156 rs1344002026 |
833 | H>Q | No |
ClinGen gnomAD |
|
|
CA227523863 rs1001759206 |
836 | S>A | No |
ClinGen Ensembl |
|
|
CA382437203 rs1225759377 |
836 | S>Y | No |
ClinGen gnomAD |
|
|
CA382437303 rs1210801176 |
842 | I>T | No |
ClinGen TOPMed |
|
|
CA382437339 rs1307439893 |
844 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs756481865 CA6243272 |
845 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 847 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 851 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382437453 rs1371182563 |
852 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 852 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382437501 rs1221918063 |
859 | Y>C | No |
ClinGen gnomAD |
|
|
CA227524882 rs769741666 |
860 | E>D | No |
ClinGen Ensembl |
|
|
rs1241299240 CA382437536 |
864 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382437541 rs1565309403 |
865 | L>P | No |
ClinGen Ensembl |
|
|
rs1295177659 CA382437561 |
868 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA382437610 rs1368223019 |
875 | L>Y | No |
ClinGen gnomAD |
No associated diseases with A6NI28
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
1 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. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| negative regulation of Rho protein signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of Rho protein signal transduction. |
| negative regulation of systemic arterial blood pressure | The process that reduces the force with which blood travels through the systemic arterial circulatory system. |
| negative regulation of vascular associated smooth muscle contraction | Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle contraction. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5ZMW5 | ARHGAP26 | Rho GTPase-activating protein 26 | Gallus gallus (Chicken) | PR |
| Q7YQL6 | OPHN1 | Oligophrenin-1 | Pan troglodytes (Chimpanzee) | PR |
| Q9UNA1 | ARHGAP26 | Rho GTPase-activating protein 26 | Homo sapiens (Human) | PR |
| O60890 | OPHN1 | Oligophrenin-1 | Homo sapiens (Human) | PR |
| Q99J31 | Ophn1 | Oligophrenin-1 | Mus musculus (Mouse) | PR |
| B2RQE8 | Arhgap42 | Rho GTPase-activating protein 42 | Mus musculus (Mouse) | PR |
| Q6ZQ82 | Arhgap26 | Rho GTPase-activating protein 26 | Mus musculus (Mouse) | PR |
| P0CAX5 | Ophn1 | Oligophrenin-1 | Rattus norvegicus (Rat) | PR |
| B5DFQ4 | arhgap26 | Rho GTPase-activating protein 26 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGLPTLEFSD | SYLDSPDFRE | RLQCHEIELE | RTNKFIKELI | KDGSLLIGAL | RNLSMAVQKF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SQSLQDFQFE | CIGDAETDDE | ISIAQSLKEF | ARLLIAVEEE | RRRLIQNAND | VLIAPLEKFR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KEQIGAAKDG | KKKFDKESEK | YYSILEKHLN | LSAKKKESHL | QEADTQIDRE | HQNFYEASLE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YVFKIQEVQE | KKKFEFVEPL | LSFLQGLFTF | YHEGYELAQE | FAPYKQQLQF | NLQNTRNNFE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| STRQEVERLM | QRMKSANQDY | RPPSQWTMEG | YLYVQEKRPL | GFTWIKHYCT | YDKGSKTFTM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SVSEMKSSGK | MNGLVTSSPE | MFKLKSCIRR | KTDSIDKRFC | FDIEVVERHG | IITLQAFSEA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NRKLWLEAMD | GKEPIYTLPA | IISKKEEMYL | NEAGFNFVRK | CIQAVETRGI | TILGLYRIGG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VNSKVQKLMN | TTFSPKSPPD | IDIDIELWDN | KTITSGLKNY | LRCLAEPLMT | YKLHKDFIIA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VKSDDQNYRV | EAVHALVHKL | PEKNREMLDI | LIKHLVKVSL | HSQQNLMTVS | NLGVIFGPTL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MRAQEETVAA | MMNIKFQNIV | VEILIEHYEK | IFHTAPDPSI | PLPQPQSRSG | SRRTRAICLS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TGSRKPRGRY | TPCLAEPDSD | SYSSSPDSTP | MGSIESLSSH | SSEQNSTTKS | ASCQPREKSG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GIPWIATPSS | SNGQKSLGLW | TTSPESSSRE | DATKTDAESD | CQSVASVTSP | GDVSPPIDLV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KKEPYGLSGL | KRASASSLRS | ISAAEGNKSY | SGSIQSLTSV | GSKETPKASP | NPDLPPKMCR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RLRLDTASSN | GYQRPGSVVA | AKAQLFENVG | SPKPVSSGRQ | AKAMYSCKAE | HSHELSFPQG |
| 850 | 860 | 870 | |||
| AIFSNVYPSV | EPGWLKATYE | GKTGLVPENY | VVFL |