A5YM69
PR
Gene name |
ARHGEF35 (ARHGEF5L) |
Protein name |
Rho guanine nucleotide exchange factor 35 |
Names |
Rho guanine nucleotide exchange factor 5-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:445328 |
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 A5YM69
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A5YM69-F1 | Predicted | AlphaFoldDB |
314 variants for A5YM69
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA369919354 rs1354923894 |
3 | A>G | No |
ClinGen gnomAD |
|
|
rs1443043193 CA369919352 |
4 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372005250 CA4543321 |
7 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1246118499 CA578628670 |
8 | H>? | No |
ClinGen gnomAD |
|
|
rs1329484837 CA369919319 |
8 | H>R | No |
ClinGen Ensembl |
|
|
CA4543320 rs751447543 |
9 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764047940 CA4543319 |
10 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA369919300 rs1350729191 |
11 | S>F | No |
ClinGen gnomAD |
|
|
rs1586941756 CA369919290 |
13 | P>R | No |
ClinGen Ensembl |
|
|
CA369919284 rs1403070202 |
14 | I>T | No |
ClinGen gnomAD |
|
|
rs199613376 CA168141132 |
14 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762830373 CA4543318 |
16 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs369745041 CA168141126 |
17 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA369919269 rs1163800715 |
17 | I>V | No |
ClinGen gnomAD |
|
|
rs1183994876 CA369919206 |
25 | E>D | No |
ClinGen gnomAD |
|
|
rs1473733417 CA369919204 |
26 | A>T | No |
ClinGen gnomAD |
|
|
rs1203564333 CA369919188 |
28 | M>T | No |
ClinGen gnomAD |
|
|
rs1252785016 CA369919181 |
29 | R>K | No |
ClinGen gnomAD |
|
|
rs764955153 CA4543316 |
29 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4543315 rs564710266 |
30 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369919134 rs1292058221 |
36 | L>S | No |
ClinGen gnomAD |
|
|
rs1422620305 CA369919077 |
44 | E>* | No |
ClinGen TOPMed |
|
|
CA369919057 rs1586941705 |
47 | S>P | No |
ClinGen Ensembl |
|
|
rs1162695349 CA369919047 |
48 | Y>C | No |
ClinGen TOPMed |
|
|
rs540350717 CA4543314 |
51 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369918988 rs1329005645 |
56 | L>F | No |
ClinGen gnomAD |
|
|
CA369918973 rs1266702104 |
58 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1230612321 CA369918919 |
66 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1329487835 CA369918914 |
66 | D>V | No |
ClinGen gnomAD |
|
|
rs761149318 CA4543312 |
74 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299129676 CA369918822 |
79 | P>R | No |
ClinGen TOPMed |
|
|
CA369918804 rs1357932873 |
82 | G>S | No |
ClinGen TOPMed |
|
|
CA369918797 rs1332338287 |
83 | S>P | No |
ClinGen gnomAD |
|
|
CA369918778 rs1323578222 |
86 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1448169526 CA369918749 |
90 | Q>E | No |
ClinGen gnomAD |
|
|
CA369918746 rs1293035420 |
90 | Q>R | No |
ClinGen TOPMed |
|
|
CA369918706 rs1434286814 |
96 | E>Q | No |
ClinGen gnomAD |
|
|
rs1386354635 CA369918678 |
100 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1241724925 CA369918667 |
101 | P>L | No |
ClinGen TOPMed |
|
|
CA369918658 rs1188388897 |
103 | H>N | No |
ClinGen TOPMed |
|
|
CA369918630 rs1341692317 |
106 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA369918626 rs1161163517 |
107 | V>I | No |
ClinGen gnomAD |
|
|
CA369918581 rs1182896338 |
114 | R>* | No |
ClinGen TOPMed |
|
|
CA369918580 rs1457546881 |
114 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA168141056 rs919728711 |
116 | A>T | No |
ClinGen TOPMed |
|
|
CA369918533 rs1406844422 |
122 | P>A | No |
ClinGen TOPMed |
|
|
rs1172237767 CA369918505 |
126 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1441772294 CA369918474 |
130 | Q>R | No |
ClinGen Ensembl |
|
|
CA369918418 rs1344271831 |
138 | P>S | No |
ClinGen TOPMed |
|
|
CA4543311 rs773692073 |
140 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369918399 rs1248534747 |
141 | S>R | No |
ClinGen gnomAD |
|
|
CA369918370 rs1464892052 |
145 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 146 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381863372 CA369918346 |
148 | E>* | No |
ClinGen TOPMed |
|
|
rs1381863372 CA369918348 |
148 | E>K | No |
ClinGen TOPMed |
|
|
rs1554426318 CA369918334 |
149 | E>D | No |
ClinGen Ensembl |
|
|
rs1246700345 CA369918323 |
151 | E>K | No |
ClinGen gnomAD |
|
|
CA369918296 rs1222443948 |
152 | F>L | No |
ClinGen TOPMed |
|
|
CA369918282 rs1211010130 |
153 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1210758124 CA369918236 |
157 | T>P | No |
ClinGen TOPMed |
|
|
CA369918226 rs1261403051 |
158 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 162 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369918153 rs1422510760 |
165 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369918121 rs1203002059 |
167 | E>A | No |
ClinGen TOPMed |
|
|
CA369918050 rs1175274159 |
172 | T>P | No |
ClinGen TOPMed |
|
|
rs1217127664 CA369918025 |
174 | S>* | No |
ClinGen gnomAD |
|
|
rs1346601304 CA369918015 |
175 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs200420628 CA369917967 |
179 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200420628 CA168141047 |
179 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1227008636 CA369917948 |
181 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA369917892 rs1239241960 |
185 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs201944335 CA369917868 |
187 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs201944335 CA168141041 |
187 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 188 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369917846 rs1264150613 |
188 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1586941517 CA369917791 |
192 | E>D | No |
ClinGen Ensembl |
|
|
CA369917805 rs1219330541 |
192 | E>K | No |
ClinGen gnomAD |
|
|
CA369917778 rs1281579019 |
194 | N>D | No |
ClinGen TOPMed |
|
|
CA369917757 rs1358376982 |
195 | Q>R | No |
ClinGen gnomAD |
|
|
rs201300875 CA168141040 |
198 | G>S | No |
ClinGen TOPMed |
|
|
CA369917727 rs969249593 |
199 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA168141039 rs969249593 |
199 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA369917703 rs1427515927 |
202 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369917688 rs1586941484 |
204 | I>M | No |
ClinGen Ensembl |
|
|
rs1357857695 CA369917693 |
204 | I>V | No |
ClinGen gnomAD |
|
|
rs1267844065 CA369917681 |
205 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1232158097 CA369917678 |
206 | Q>* | No |
ClinGen TOPMed |
|
|
rs267601378 CA168141022 |
207 | G>E | No |
ClinGen Ensembl |
|
|
rs1483245000 CA369917661 |
208 | E>D | No |
ClinGen TOPMed |
|
|
rs1174398326 CA369917667 |
208 | E>Q | No |
ClinGen gnomAD |
|
|
CA369917656 rs1183966133 |
209 | E>A | No |
ClinGen TOPMed |
|
|
CA168141007 rs878910269 |
212 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 218 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388355287 CA369917589 |
219 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA369917587 rs1191076357 |
219 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 220 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 220 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 222 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369917563 rs1328764508 |
223 | H>N | No |
ClinGen TOPMed |
|
| TCGA novel | 224 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1024718620 CA168141003 |
232 | E>K | No |
ClinGen TOPMed |
|
|
CA168140998 rs1013782627 |
235 | Q>R | No |
ClinGen TOPMed |
|
|
CA369917470 rs1402924770 |
236 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1237268863 CA369917434 |
241 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA369917435 rs1364676967 |
241 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA168140997 rs879452879 |
244 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA369917399 rs1308225267 |
247 | R>M | No |
ClinGen Ensembl |
|
|
CA369917359 rs1278853765 |
252 | A>V | No |
ClinGen gnomAD |
|
|
rs1339480996 CA369917358 |
253 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1339480996 CA369917356 |
253 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA369917349 rs1266420252 |
254 | G>W | No |
ClinGen TOPMed |
|
|
CA369917329 rs1229062729 |
257 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA168140992 rs956382234 |
258 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA369917317 rs1563070703 |
259 | E>K | No |
ClinGen Ensembl |
|
|
rs1238335094 CA369917301 |
261 | M>L | No |
ClinGen Ensembl |
|
|
CA369917293 rs1378347064 |
262 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 267 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 268 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 271 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA168140990 rs1031104584 |
272 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA369917219 rs1031104584 |
272 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA369917206 rs1432125620 |
273 | K>N | No |
ClinGen TOPMed |
|
|
CA369917156 rs1313744789 |
280 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA369917112 rs1368803429 |
286 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA369917097 rs1246427351 |
288 | G>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 288 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170491595 CA369917083 |
290 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA168140981 rs999036421 |
294 | T>S | No |
ClinGen TOPMed |
|
|
CA168140980 rs904793939 |
295 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA369917053 rs1429696248 |
295 | G>R | No |
ClinGen gnomAD |
|
|
CA369917034 rs1413686503 |
298 | E>K | No |
ClinGen gnomAD |
|
|
rs1180527015 CA369917029 |
298 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1481832132 CA369916969 |
303 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369916940 rs1191884596 |
305 | W>R | No |
ClinGen TOPMed |
|
|
rs1586941298 CA369916866 |
309 | D>V | No |
ClinGen Ensembl |
|
|
rs1248044932 CA369916851 |
310 | M>K | No |
ClinGen TOPMed |
|
|
CA369916857 rs1221263296 |
310 | M>L | No |
ClinGen gnomAD |
|
|
rs1221263296 CA369916854 |
310 | M>V | No |
ClinGen gnomAD |
|
|
rs1276241146 CA369916836 |
311 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369916806 rs1451942137 |
313 | K>Q | No |
ClinGen TOPMed |
|
|
CA168140972 rs1043169040 |
315 | Q>* | No |
ClinGen TOPMed |
|
|
CA369916779 rs1043169040 |
315 | Q>K | No |
ClinGen TOPMed |
|
|
rs996964688 CA369916761 |
316 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs996964688 CA168140970 |
316 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA369916737 rs1586941258 |
318 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 319 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204594078 CA369916713 |
320 | P>T | No |
ClinGen gnomAD |
|
|
rs1321104211 CA369916696 |
321 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA369916700 rs1321104211 |
321 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA369916602 rs1275161263 |
327 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA369916583 rs1287610735 |
328 | R>M | No |
ClinGen gnomAD |
|
| TCGA novel | 329 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1586941241 CA369916523 |
332 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 337 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369916449 rs1381829845 |
337 | R>S | No |
ClinGen TOPMed |
|
|
rs1287420077 CA369916440 |
338 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1379646465 CA369916446 |
338 | A>T | No |
ClinGen gnomAD |
|
|
CA369916437 rs1287420077 |
338 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1348104455 CA369916419 |
339 | D>E | No |
ClinGen TOPMed |
|
|
rs1204174668 CA369916410 |
340 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 340 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 341 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369916378 rs879398987 |
342 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1465837045 CA369916375 |
343 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1309997900 CA369916329 |
345 | S>R | No |
ClinGen gnomAD |
|
|
CA369916320 rs1462543000 |
346 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4543308 rs79434082 |
347 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4543307 rs79434082 |
347 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4543306 rs79434082 |
347 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369916300 rs1163320641 |
348 | F>V | No |
ClinGen gnomAD |
|
|
CA369916270 rs1419039750 |
350 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1253502571 CA369916175 |
358 | K>E | No |
ClinGen gnomAD |
|
|
CA4543303 rs780003486 |
358 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4543302 rs756214332 |
359 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1192205191 CA369916137 |
360 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs201257648 CA4543301 |
362 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4543300 rs201257648 |
362 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369916070 rs1267344886 |
364 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4543299 rs758310403 |
365 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1396467357 CA369916010 |
368 | G>A | No |
ClinGen TOPMed |
|
|
CA369916006 rs1327405212 |
369 | V>I | No |
ClinGen gnomAD |
|
|
CA369915983 rs1237932480 |
370 | P>Q | No |
ClinGen TOPMed |
|
|
CA4543296 rs200750155 |
371 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4543297 rs200750155 |
371 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199624188 CA4543294 |
372 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199624188 CA4543295 |
372 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4543291 rs367704722 |
373 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773746833 CA4543292 |
373 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773746833 CA369915950 |
373 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4543290 rs762258500 |
374 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774710825 CA4543289 |
375 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4543288 rs768998341 |
376 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs768998341 CA369915904 |
376 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1479555071 CA369915845 |
380 | E>D | No |
ClinGen TOPMed |
|
|
rs769815349 CA4543285 |
382 | W>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369915701 rs1259351975 |
390 | V>A | No |
ClinGen gnomAD |
|
|
rs781383141 CA4543282 |
391 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1261034756 CA369915673 |
392 | R>S | No |
ClinGen gnomAD |
|
|
rs758435535 CA369915663 |
393 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4543281 rs758435535 |
393 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1299355583 CA369915645 |
395 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA369915620 rs1308368882 |
396 | R>K | No |
ClinGen TOPMed |
|
|
rs778636563 CA4543279 |
397 | E>Q | No |
ClinGen ExAC |
|
|
CA369915594 rs1236556156 |
398 | E>Q | No |
ClinGen gnomAD |
|
|
CA4543277 rs143710510 |
400 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369915513 rs1391311170 |
403 | H>N | No |
ClinGen gnomAD |
|
|
rs1289752166 CA369915494 |
404 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA369915496 rs1289752166 |
404 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA369915486 rs1465295596 |
405 | P>H | No |
ClinGen gnomAD |
|
|
CA4543276 rs753478901 |
407 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA168140766 rs931184118 |
407 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755680178 CA4543275 |
408 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755680178 CA4543274 |
408 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4543272 rs373827594 |
409 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762322064 CA4543271 |
410 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1199648172 CA369915418 |
411 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1489924716 CA369915407 |
412 | A>P | No |
ClinGen TOPMed |
|
|
rs1489924716 CA369915413 |
412 | A>S | No |
ClinGen TOPMed |
|
|
rs774825505 CA4543270 |
416 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4543269 rs764432895 |
416 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763344960 CA369915326 |
418 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1213233842 CA369915330 |
418 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4543267 rs775621967 |
419 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA369915287 rs770074593 |
420 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200777966 CA4543264 |
421 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs571652509 CA4543263 |
424 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 425 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369915229 rs1399666370 |
425 | A>V | No |
ClinGen gnomAD |
|
|
rs748167394 CA4543261 |
427 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369915199 rs1166167480 |
428 | L>V | No |
ClinGen gnomAD |
|
|
rs1586940964 CA369915181 |
429 | V>E | No |
ClinGen Ensembl |
|
|
rs553072768 CA369915187 |
429 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553072768 CA4543259 |
429 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA369915174 rs1186623731 |
430 | T>S | No |
ClinGen gnomAD |
|
|
rs749133506 CA4543258 |
431 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs755769126 CA4543256 |
432 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369915142 rs1388030822 |
432 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 433 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486085007 CA369915138 |
433 | P>S | No |
ClinGen gnomAD |
|
|
CA4543254 rs535143171 CA168140651 |
434 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1342147877 CA369915108 |
435 | T>S | No |
ClinGen gnomAD |
|
|
CA4543253 rs368174452 |
436 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369915086 rs1416542491 |
437 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 437 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs567390207 CA4543250 |
438 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764638962 CA4543251 |
438 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1415089841 CA369915059 |
439 | S>P | No |
ClinGen gnomAD |
|
|
CA4543248 rs765450023 |
440 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1411120236 CA369915032 |
441 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs547983009 CA4543247 |
442 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144276054 CA4543246 |
443 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771178813 CA369914991 |
444 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773119928 CA4543243 |
446 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA369914956 rs779913268 |
447 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4543240 rs779913268 |
447 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1180159868 CA369914948 |
447 | A>V | No |
ClinGen gnomAD |
|
|
rs769564833 CA369914943 |
448 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4543239 rs769564833 |
448 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745587281 CA4543238 |
449 | L>P | No |
ClinGen ExAC |
|
|
rs375102038 CA168140582 |
449 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4543237 rs780791566 |
451 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA369914910 rs1586940847 |
451 | P>S | No |
ClinGen Ensembl |
|
|
rs2951313 CA369914898 |
452 | L>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs2951313 CA4543236 |
452 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234255185 CA369914888 |
453 | L>V | No |
ClinGen gnomAD |
|
|
CA4543234 CA369914866 rs777105286 |
454 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286102013 CA369914875 |
454 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA369914879 rs1286102013 |
454 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4543233 rs758945534 |
455 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1381164651 CA369914859 |
455 | P>S | No |
ClinGen TOPMed |
|
|
rs200115857 CA369914842 |
456 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369914845 rs1385079564 |
456 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4543232 rs753084294 |
456 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA369914834 rs1267665929 |
457 | R>K | No |
ClinGen TOPMed |
|
|
rs1731348 CA168140543 |
457 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 458 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4543229 rs4726676 |
458 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1409441734 CA369914779 |
460 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1442654800 CA369914790 |
460 | H>Y | No |
ClinGen TOPMed |
|
|
rs760942675 CA4543227 |
461 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs760942675 CA369914774 |
461 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA369914760 rs1471248637 |
462 | P>A | No |
ClinGen gnomAD |
|
|
rs1425247402 CA369914741 |
463 | I>F | No |
ClinGen TOPMed |
|
|
rs773348100 CA4543226 |
464 | S>P | No |
ClinGen ExAC |
|
|
CA369914706 rs1370110334 |
466 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA369914687 rs769616365 |
467 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4543222 rs769616365 |
467 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4543223 rs769616365 |
467 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447873633 CA369914665 |
469 | F>L | No |
ClinGen TOPMed |
|
|
rs1303855290 CA369914659 |
469 | F>S | No |
ClinGen TOPMed |
|
|
TCGA novel rs770600592 CA4543219 |
470 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs1350943301 CA369914626 |
472 | E>G | No |
ClinGen gnomAD |
|
|
rs1450384688 CA369914632 |
472 | E>K | No |
ClinGen gnomAD |
|
|
CA369914608 rs1230410584 |
473 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs746574410 CA4543218 |
473 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369914600 rs1330029444 |
474 | S>P | No |
ClinGen TOPMed |
|
|
rs1373154551 CA369914579 |
475 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1373154551 CA369914580 |
475 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4543216 rs757830241 |
476 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753309686 CA4543215 |
480 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369914511 rs1402717793 |
480 | L>H | No |
ClinGen gnomAD |
|
| TCGA novel | 480 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4543214 rs779544479 |
481 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs760966083 CA4543210 |
483 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766784803 CA369914480 |
483 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766784803 CA4543211 CA168140447 |
483 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369914468 rs767703832 |
484 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA4543207 rs767703832 |
484 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4543206 rs200405244 |
485 | L>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with A5YM69
1 regional properties for A5YM69
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Rho guanine nucleotide exchange factor 5/35, N-terminal | 1 - 478 | IPR029212 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q12774 | ARHGEF5 | Rho guanine nucleotide exchange factor 5 | Homo sapiens (Human) | EV |
| Q8N5V2 | NGEF | Ephexin-1 | Homo sapiens (Human) | EV |
| Q8IW93 | ARHGEF19 | Rho guanine nucleotide exchange factor 19 | Homo sapiens (Human) | SS |
| Q96DR7 | ARHGEF26 | Rho guanine nucleotide exchange factor 26 | Homo sapiens (Human) | SS |
| O94989 | ARHGEF15 | Rho guanine nucleotide exchange factor 15 | Homo sapiens (Human) | SS |
| Q5VV41 | ARHGEF16 | Rho guanine nucleotide exchange factor 16 | Homo sapiens (Human) | PR |
| Q8BWA8 | Arhgef19 | Rho guanine nucleotide exchange factor 19 | Mus musculus (Mouse) | PR |
| Q3U5C8 | Arhgef16 | Rho guanine nucleotide exchange factor 16 | Mus musculus (Mouse) | PR |
| E9Q7D5 | Arhgef5 | Rho guanine nucleotide exchange factor 5 | Mus musculus (Mouse) | SS |
| Q8CHT1 | Ngef | Ephexin-1 | Mus musculus (Mouse) | SS |
| Q5FWH6 | Arhgef15 | Rho guanine nucleotide exchange factor 15 | Mus musculus (Mouse) | SS |
| Q5BKC9 | Ngef | Ephexin-1 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAEEAQHGA | SPPISAIEEF | SIIPEAPMRS | SQVSALGLEA | QEDEDPSYKW | REEHRLSATQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QSELRDVCDY | AIETMPSFPK | EGSADVEPNQ | ESLVAEACDT | PEHWEAVPQS | LAGRQARTLA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PPELWACPIQ | SEHLDMAPFS | SDLGSEEEEV | EFWPGLTSLT | LGSGQAEEEE | ETSSDNSGQT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RYYSPCEEHP | AETNQNEGAE | SGTIRQGEEL | PSEELQESQG | LLHPQEVQVL | EEQGQQEAGF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RGEGTLREDV | CADGLLGEEQ | MIEQVNDEKG | EQKQKQEQVQ | DVMLGRQGER | MGLTGEPEGL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NDGEWEQEDM | ERKAQGQGGP | EQGEERKREL | QVPEENRADS | QDEKSQTFLG | KSEEVTGKQE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DHGIKEKGVP | VSGQEAKEPE | SWDGGRLGAV | GRARSREEEN | EHHGPSMPAL | IAPEDSPHCD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LFPGASYLVT | QIPGTQTESR | AEELSPAALS | PLLEPIRCSH | QPISLLGSFL | TEESPDKEKL |
| LSVL |