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 Q13905

Entry ID Method Resolution Chain Position Source
5L23 X-ray 177 A B 279-293 PDB
AF-Q13905-F1 Predicted AlphaFoldDB

683 variants for Q13905

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 2 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5295464
rs750512966
2 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA5295463
rs569531916
3 T>R No ClinGen
1000Genomes
ExAC
gnomAD
CA5295402
rs779630118
7 R>H No ClinGen
ExAC
gnomAD
rs1241986147
CA375317586
9 H>Y No ClinGen
gnomAD
rs1317300327
CA375317578
10 L>F No ClinGen
gnomAD
rs552631144
CA200781870
10 L>P No ClinGen
gnomAD
rs1302888729
CA375317541
15 M>I No ClinGen
gnomAD
CA375317525
rs1457103614
18 M>K No ClinGen
TOPMed
rs766799115
CA5295399
18 M>L No ClinGen
ExAC
gnomAD
CA200781858
rs1041771986
20 K>R No ClinGen
Ensembl
COSM48732
rs760273194
COSM1460663
CA5295398
21 F>L lung large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1292094371
CA375317495
22 H>Y No ClinGen
TOPMed
rs1364731661
CA375317466
26 I>T No ClinGen
gnomAD
rs767050584
CA5295396
26 I>V No ClinGen
ExAC
gnomAD
CA5295395
rs761441085
27 K>R No ClinGen
ExAC
gnomAD
COSM1263807
CA375317444
rs1416280444
29 T>M oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1588766721
CA375317432
31 S>L No ClinGen
Ensembl
CA5295392
rs762821919
32 K>E No ClinGen
ExAC
gnomAD
COSM263254
rs374143304
CA200781827
32 K>N large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
CA375317407
rs1486187697
35 K>R No ClinGen
TOPMed
gnomAD
CA375317403
rs756507437
36 P>A No ClinGen
gnomAD
rs1236669500
CA375317399
36 P>L No ClinGen
gnomAD
rs756507437
CA200781816
36 P>T No ClinGen
gnomAD
rs1321277615
CA375317398
37 A>T No ClinGen
TOPMed
CA375317390
rs1293557486
38 E>A No ClinGen
gnomAD
CA375317386
rs1232094776
38 E>D No ClinGen
gnomAD
rs775289732
CA5295390
38 E>K No ClinGen
ExAC
gnomAD
rs548185079
CA5295389
40 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5295387
rs565949828
41 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA5295386
rs565949828
41 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs748242931
CA5295385
42 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs573240392
CA5295384
44 P>A No ClinGen
ExAC
gnomAD
rs573240392
CA375317355
44 P>S No ClinGen
ExAC
gnomAD
rs368190968
CA5295383
46 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375317335
rs1351783373
47 P>A No ClinGen
gnomAD
CA375317328
rs1165941485
48 V>M No ClinGen
gnomAD
rs754353280
CA5295382
50 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs759434441
CA5295369
51 E>Q No ClinGen
ExAC
gnomAD
rs1434901414
CA375317290
52 A>T No ClinGen
gnomAD
rs776221362
CA5295368
53 T>A No ClinGen
ExAC
gnomAD
rs1459408314
CA375317275
54 D>G No ClinGen
gnomAD
CA375317274
rs1459408314
54 D>V No ClinGen
gnomAD
TCGA novel 55 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375317259
rs1192823728
56 F>C No ClinGen
gnomAD
CA375317261
rs1192823728
56 F>Y No ClinGen
gnomAD
CA375317253
rs1345567197
57 L>P No ClinGen
TOPMed
rs1466833562
CA375317249
58 P>S No ClinGen
gnomAD
CA5295367
rs772351694
60 G>S No ClinGen
ExAC
gnomAD
CA200781454
rs962572451
61 Y>C No ClinGen
gnomAD
rs1408632806
CA375317220
62 P>L No ClinGen
TOPMed
rs748330721
CA5295366
66 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375317162
rs1350744044
71 A>S No ClinGen
TOPMed
gnomAD
rs61758813
CA200781419
72 V>I No ClinGen
Ensembl
TCGA novel 73 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5295364
rs768893162
73 E>V No ClinGen
ExAC
gnomAD
CA375317144
rs1440670679
74 F>L No ClinGen
gnomAD
rs1170916051
CA375317132
75 M>I No ClinGen
gnomAD
rs1289615839
CA375317136
75 M>L No ClinGen
TOPMed
CA5295362
rs780666444
76 S>T No ClinGen
ExAC
gnomAD
CA200781403
rs1035069614
78 S>C No ClinGen
Ensembl
rs1391974965
CA375317104
80 V>L No ClinGen
gnomAD
TCGA novel 82 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1588760157
CA375317078
84 S>A No ClinGen
Ensembl
CA5295361
rs375205005
86 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375317056
rs1422042195
87 Q>R No ClinGen
gnomAD
rs760511714
CA375317030
89 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs760511714
CA5295349
89 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA5295348
rs377352437
91 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374523476
CA5295347
97 E>Q No ClinGen
ESP
ExAC
gnomAD
CA375316952
rs749443716
99 E>D No ClinGen
ExAC
gnomAD
CA375316949
rs1485719219
100 V>I No ClinGen
TOPMed
gnomAD
CA5295345
rs775368540
102 S>G No ClinGen
ExAC
gnomAD
rs770350389
CA5295344
105 R>C No ClinGen
ExAC
gnomAD
rs972675664
CA200777528
105 R>H No ClinGen
TOPMed
gnomAD
CA375316889
rs1286761126
109 T>N No ClinGen
gnomAD
rs1252508430
CA375316877
111 V>L No ClinGen
gnomAD
rs746315253
CA5295343
118 K>E No ClinGen
ExAC
gnomAD
CA5295342
rs781646236
118 K>R No ClinGen
ExAC
gnomAD
rs1235153711
CA375316799
122 E>A No ClinGen
gnomAD
CA375316786
rs1356183684
123 M>I No ClinGen
gnomAD
rs961301715
CA200777505
128 A>T No ClinGen
TOPMed
CA375316748
rs1249256151
130 K>E No ClinGen
TOPMed
rs758043867
CA5295338
135 I>F No ClinGen
ExAC
gnomAD
CA5295337
rs752263305
136 L>V No ClinGen
ExAC
gnomAD
CA375316703
rs1382246609
137 P>T No ClinGen
gnomAD
CA5295335
rs754973960
139 V>M No ClinGen
ExAC
gnomAD
CA5295332
rs760601332
142 D>N Variant assessed as Somatic; 4.662e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5295331
rs750235990
144 R>G No ClinGen
ExAC
gnomAD
CA375316655
rs1216895774
144 R>L No ClinGen
TOPMed
gnomAD
rs1216895774
CA375316657
144 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA5295330
rs764413427
146 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs753371032
CA5295316
151 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs780204978
CA5295315
151 L>H No ClinGen
ExAC
gnomAD
CA375316589
rs1252633175
152 S>C No ClinGen
gnomAD
CA375316588
rs1252633175
152 S>F No ClinGen
gnomAD
CA5295314
rs530339704
154 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA375316578
rs1171090943
154 C>S No ClinGen
TOPMed
CA375316571
rs1416030588
155 Y>C No ClinGen
TOPMed
rs1399761789
CA375316574
155 Y>H No ClinGen
TOPMed
rs1309335863
CA375316556
157 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA375316539
rs1213903398
160 Q>K No ClinGen
gnomAD
rs752906356
CA5295310
164 N>T No ClinGen
ExAC
gnomAD
COSM1263806
CA200774293
rs766549343
167 R>C oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
rs759592415
CA5295307
167 R>H No ClinGen
ExAC
gnomAD
CA5295304
rs771434527
171 Q>L No ClinGen
ExAC
gnomAD
CA375316457
rs1564595593
172 V>M No ClinGen
Ensembl
CA5295303
rs761119892
173 M>V No ClinGen
ExAC
gnomAD
CA375316421
rs1438680484
177 V>A No ClinGen
TOPMed
gnomAD
CA5295299
rs537239858
177 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA375316379
rs1203959931
183 E>G No ClinGen
gnomAD
rs768346306
CA5295298
183 E>K No ClinGen
ExAC
gnomAD
CA5295297
rs201045584
184 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5295296
rs779650960
186 T>M Variant assessed as Somatic; 0.0001856 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA375316327
rs1285755980
191 V>I No ClinGen
TOPMed
rs756146215
CA5295295
192 I>V No ClinGen
ExAC
gnomAD
CA5295294
rs745762812
193 K>R No ClinGen
ExAC
gnomAD
rs561177809
CA375316302
195 V>L No ClinGen
TOPMed
gnomAD
rs561177809
CA200774209
195 V>M No ClinGen
TOPMed
gnomAD
rs768203706
CA375315632
201 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs372245486
CA5295277
205 L>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372245486
CA200769232
205 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375315609
rs1588599157
206 T>P No ClinGen
Ensembl
rs745352448
CA5295275
208 E>K No ClinGen
ExAC
gnomAD
rs1231388847
CA375315580
210 Q>E No ClinGen
gnomAD
CA5295273
rs200166424
212 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs116942407
CA5295272
212 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777567428
CA5295271
213 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1259996460
CA375315557
214 S>P No ClinGen
gnomAD
CA5295268
rs751308874
216 T>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 217 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1241690756
CA375315530
217 S>C No ClinGen
gnomAD
rs750494281
CA375315519
218 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs750494281
CA5295266
218 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA5295265
rs541315585
219 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1381185635
CA375315465
222 S>N No ClinGen
TOPMed
CA375315453
rs1588598537
223 S>P No ClinGen
Ensembl
rs574296485
CA5295264
224 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5295263
rs774599191
224 P>L No ClinGen
ExAC
gnomAD
CA5295262
rs764481637
228 P>R No ClinGen
ExAC
gnomAD
rs1165698903
CA375315370
229 D>Y No ClinGen
gnomAD
rs1407796539
CA375315290
232 A>G No ClinGen
TOPMed
CA5295236
rs771992780
233 E>G No ClinGen
ExAC
gnomAD
rs1588588108
CA375315258
234 L>R No ClinGen
Ensembl
rs200382304
CA5295235
234 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5295234
rs778617868
235 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA375315245
rs1330928344
235 P>L No ClinGen
gnomAD
rs778617868
CA200768477
235 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs370381401
CA5295232
236 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757409551
CA5295230
238 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA5295228
rs200860345
239 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200860345
CA5295229
239 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs568797999
CA5295226
240 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5295225
rs765649745
243 I>N No ClinGen
ExAC
gnomAD
CA375315124
rs1181841534
245 N>T No ClinGen
gnomAD
CA5295223
rs753574257
246 K>E No ClinGen
ExAC
gnomAD
rs1249069086
CA375315108
246 K>R No ClinGen
gnomAD
rs765932532
CA5295222
247 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs760298588
CA5295221
248 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA375315029
rs1228499181
252 Q>R No ClinGen
gnomAD
CA375315013
rs1343070796
253 S>P No ClinGen
gnomAD
rs772006955
CA5295219
254 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs761686123
CA5295218
257 L>F No ClinGen
ExAC
gnomAD
CA375314938
rs550406702
258 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs550406702
CA5295216
258 P>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs776973464
CA5295214
259 D>G No ClinGen
ExAC
gnomAD
CA5295215
rs749017299
259 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs771058946
CA5295213
260 A>S No ClinGen
ExAC
gnomAD
CA375314911
rs1333215645
261 T>A No ClinGen
gnomAD
rs1412570417
CA375314904
261 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs777943664
CA5295211
262 D>Y No ClinGen
ExAC
gnomAD
rs758997569
CA5295210
263 E>D No ClinGen
ExAC
gnomAD
COSM246952
rs779538227
CA5295208
266 A>T prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1476448048
CA375314850
266 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5295206
rs754148058
268 P>T No ClinGen
ExAC
gnomAD
rs1564570119 269 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375314826
rs1441052004
270 P>L No ClinGen
gnomAD
CA5295205
rs766059876
271 P>S No ClinGen
ExAC
gnomAD
rs755659873
CA5295204
273 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755659873
CA375314810
273 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1266287430
CA375314791
276 R>Q No ClinGen
gnomAD
rs749968456
CA5295203
276 R>W No ClinGen
ExAC
gnomAD
CA375314779
rs1355959442
278 V>I No ClinGen
gnomAD
CA5295188
rs780229591
285 A>T No ClinGen
ExAC
gnomAD
CA200768013
rs1128780
287 P>T No ClinGen
Ensembl
CA375314518
rs1422316325
293 S>L No ClinGen
TOPMed
gnomAD
CA5295185
rs767136792
294 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs767136792
CA200767988
294 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5295184
rs376984562
294 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5295182
rs764100628
295 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs746924191
CA200767986
295 P>T No ClinGen
TOPMed
gnomAD
CA375314461
rs1588582063
298 T>P No ClinGen
Ensembl
CA5295180
rs775378161
299 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs764902555
CA5295179
299 R>Q No ClinGen
ExAC
gnomAD
rs1588581945
CA375314435
300 V>G No ClinGen
Ensembl
rs773624761
CA5295177
302 V>G No ClinGen
ExAC
gnomAD
CA375314418
rs759346484
302 V>L No ClinGen
ExAC
gnomAD
CA5295178
rs759346484
302 V>M No ClinGen
ExAC
gnomAD
CA375314398
rs772416369
303 V>A No ClinGen
ExAC
gnomAD
CA5295176
rs772416369
303 V>G No ClinGen
ExAC
gnomAD
rs1184917903
CA375314385
304 A>G No ClinGen
TOPMed
CA375314388
rs1234546327
304 A>S No ClinGen
gnomAD
CA375314369
rs1366522869
305 P>L No ClinGen
TOPMed
gnomAD
CA375314375
rs1421743489
305 P>S No ClinGen
TOPMed
rs1000237593
CA200767960
306 M>R No ClinGen
Ensembl
rs190989207
CA5295174
308 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5295173
rs527872016
309 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs527872016
CA5295172
309 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA375314292
rs1356729026
311 S>G No ClinGen
gnomAD
rs1309179569
CA375314261
313 S>T No ClinGen
gnomAD
rs1369071723
CA375314184
318 G>A No ClinGen
gnomAD
CA375314183
rs1369071723
318 G>E No ClinGen
gnomAD
rs780578485
CA5295171
319 I>V No ClinGen
ExAC
gnomAD
CA5295170
rs770102713
321 R>G No ClinGen
ExAC
gnomAD
CA5295169
rs746220458
321 R>K No ClinGen
ExAC
gnomAD
CA200767922
rs979172358
322 Q>R No ClinGen
TOPMed
gnomAD
CA375314069
rs1266892989
325 D>G No ClinGen
gnomAD
rs1329480257
CA375314072
325 D>Y No ClinGen
gnomAD
CA200767561
rs750447980
326 V>A No ClinGen
Ensembl
rs746627497
CA5295149
327 D>N No ClinGen
ExAC
gnomAD
TCGA novel 329 Y>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs182027174
CA5295147
330 A>P No ClinGen
1000Genomes
ExAC
gnomAD
rs182027174
CA5295146
330 A>T No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 331 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1342575366
CA375314000
331 Q>R No ClinGen
TOPMed
rs1250638471
CA375313973
333 R>* No ClinGen
gnomAD
rs1301505486
CA375313969
333 R>Q No ClinGen
TOPMed
gnomAD
rs1455727582
CA375313931
336 G>V No ClinGen
gnomAD
CA375313922
rs1419856927
338 S>G No ClinGen
TOPMed
gnomAD
rs1165391734
CA375313900
339 H>P No ClinGen
gnomAD
rs1253793243
CA375313874
341 Y>C No ClinGen
gnomAD
rs1423233918
CA375313880
341 Y>N No ClinGen
gnomAD
CA5295143
rs753703794
342 G>S No ClinGen
ExAC
gnomAD
CA5295142
rs766236097
343 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA200767529
rs766236097
343 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA375313817
rs1469412129
345 S>A No ClinGen
gnomAD
CA375313811
rs1265575067
345 S>L No ClinGen
gnomAD
rs1469412129
CA375313819
345 S>P No ClinGen
gnomAD
rs1321690179
CA375313802
346 P>S No ClinGen
TOPMed
gnomAD
CA375313806
rs1321690179
346 P>T No ClinGen
TOPMed
gnomAD
rs367625883
CA5295138
347 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1366135536
CA375313764
349 S>F No ClinGen
gnomAD
CA5295137
rs763011858
349 S>P No ClinGen
ExAC
gnomAD
CA375313738
rs1433253891
351 C>W No ClinGen
gnomAD
CA375313747
rs1320147741
351 C>Y No ClinGen
gnomAD
rs1235733509
CA375313730
352 S>G No ClinGen
gnomAD
CA375313728
rs1392957194
352 S>N No ClinGen
TOPMed
gnomAD
rs1294247888
CA375313712
353 S>N No ClinGen
gnomAD
rs1062978
CA200767507
355 G>D No ClinGen
Ensembl
CA375313688
rs1457306749
355 G>S No ClinGen
gnomAD
CA5295136
rs775574339
356 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA375313661
rs17148118
356 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371392582
CA5295134
357 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777015030
CA200767480
359 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs777015030
CA5295133
359 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs536979724
CA5295130
361 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1267397488
CA375313534
361 D>G No ClinGen
gnomAD
rs747623029
CA5295128
362 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA375313527
rs1488414551
362 E>K No ClinGen
gnomAD
rs530351728
CA200767470
363 Q>E No ClinGen
1000Genomes
CA375313444
rs1207662154
369 R>K No ClinGen
gnomAD
CA375313362
rs1226433053
374 C>W No ClinGen
gnomAD
CA5295127
rs376229385
374 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1266980197
CA375313350
375 S>F No ClinGen
Ensembl
CA5295125
rs199925290
376 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374421425
CA200767451
376 R>W No ClinGen
ESP
gnomAD
CA375313329
rs1588574880
377 N>K No ClinGen
Ensembl
rs780117501
CA5295124
379 S>G No ClinGen
ExAC
gnomAD
CA375313312
rs1309770062
379 S>N No ClinGen
gnomAD
CA200767447
rs1045172248
380 C>Y No ClinGen
gnomAD
rs1347894060
CA375313292
381 E>Q No ClinGen
TOPMed
rs1369689167
CA375313280
382 T>I No ClinGen
gnomAD
rs1257371749
CA375312906
385 H>R No ClinGen
gnomAD
rs376892315
CA5295104
386 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1336504576
CA375312843
389 D>E No ClinGen
TOPMed
gnomAD
rs753007338
CA5295102
389 D>N No ClinGen
ExAC
gnomAD
rs1309410835
CA375312832
390 Y>C No ClinGen
gnomAD
rs1229116067
CA375312762
395 Q>E No ClinGen
gnomAD
rs755111510
CA5295100
398 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs766883155
CA5295098
COSM1223136
400 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA200766613
rs1007338204
400 A>V No ClinGen
TOPMed
gnomAD
rs750781112
CA5295095
404 P>L No ClinGen
ExAC
gnomAD
TCGA novel 406 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375312605
rs1448247712
406 Q>R No ClinGen
TOPMed
rs369751075
CA5295094
407 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774204811
CA5295092
408 A>S No ClinGen
ExAC
gnomAD
CA5295089
rs201821916
412 S>C No ClinGen
ESP
ExAC
TOPMed
CA375312567
rs201821916
412 S>G No ClinGen
ESP
ExAC
TOPMed
rs369525791
CA5295088
413 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375312548
rs770812291
415 P>A No ClinGen
ExAC
gnomAD
rs770812291
CA5295084
415 P>S No ClinGen
ExAC
gnomAD
rs902525420
CA200766581
417 S>A No ClinGen
TOPMed
CA200766575
rs1054248746
418 L>F No ClinGen
TOPMed
gnomAD
CA375312528
rs1229942301
418 L>S No ClinGen
gnomAD
CA5295082
rs371991410
419 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755131975
CA5295081
421 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs755131975
CA375312508
421 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs938128133
CA200766547
422 G>R No ClinGen
TOPMed
gnomAD
rs1320801591
CA375312503
422 G>V No ClinGen
TOPMed
gnomAD
TCGA novel 425 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375312481
rs1385774561
426 L>V No ClinGen
gnomAD
TCGA novel 427 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5295079
rs374122655
427 G>S No ClinGen
ESP
ExAC
gnomAD
rs200859564
CA5295078
428 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 435 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5295077
rs750986831
435 G>R No ClinGen
ExAC
gnomAD
CA5295075
rs200121349
436 G>D No ClinGen
1000Genomes
ExAC
gnomAD
CA375312419
rs943127639
436 G>R No ClinGen
TOPMed
gnomAD
rs943127639
CA200766519
436 G>S No ClinGen
TOPMed
gnomAD
rs113690899
CA5295073
437 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1365084985
CA375312395
440 P>A No ClinGen
TOPMed
gnomAD
TCGA novel 440 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA200766496
rs987242368
441 D>G No ClinGen
TOPMed
gnomAD
CA375312382
COSM1106190
rs1289062746
CA375312381
442 G>R Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA375312360
rs1208058639
445 A>G No ClinGen
gnomAD
rs1208058639
CA375312362
445 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1564559901
CA375312358
446 P>A No ClinGen
Ensembl
rs775172011
CA5295071
447 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1327015667
CA375312328
450 T>R No ClinGen
TOPMed
rs776692924
CA375312315
452 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs776692924
CA5295068
452 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA5295066
rs567525549
454 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1486903332
CA375312300
455 A>S No ClinGen
TOPMed
gnomAD
rs1423362180
CA375312287
457 P>H No ClinGen
gnomAD
CA5295064
rs376162862
458 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376162862
CA375312284
458 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375312259
rs1463826499
461 R>C No ClinGen
TOPMed
rs374029787
CA200766458
461 R>H No ClinGen
ESP
TOPMed
gnomAD
rs184114333
CA5295063
463 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756273659
CA5295061
464 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1262595294
CA375312221
467 Q>R No ClinGen
gnomAD
CA5295060
rs554713394
468 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA5295058
rs201889315
469 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA375312201
rs1204206244
470 D>E No ClinGen
gnomAD
rs758806260
CA5295055
471 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5295054
rs752450181
471 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA200766404
rs1010757833
472 S>P No ClinGen
gnomAD
CA375312190
rs1219516575
473 G>R No ClinGen
gnomAD
rs1588555769
CA375312153
476 V>G No ClinGen
Ensembl
CA5295052
rs759155807
477 S>F No ClinGen
ExAC
gnomAD
CA375312119
rs1308967608
479 E>G No ClinGen
gnomAD
CA5295050
rs766359073
479 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1353187890
CA375312102
480 R>Q No ClinGen
gnomAD
CA5295049
rs376173506
480 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1346866162
CA375312070
482 P>H No ClinGen
TOPMed
CA5295048
rs773098573
482 P>S No ClinGen
ExAC
gnomAD
rs1415303385
CA375312056
483 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs893752079
CA200766392
485 Y>C No ClinGen
Ensembl
CA5295045
rs775848293
486 D>E No ClinGen
ExAC
gnomAD
CA375312007
rs1174408844
486 D>V No ClinGen
gnomAD
CA375311998
rs1252466800
487 N>H No ClinGen
gnomAD
CA5295044
rs765702797
487 N>S No ClinGen
ExAC
gnomAD
rs373197789
CA375311977
488 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375311980
rs373197789
488 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5295043
rs373197789
488 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5295041
rs757872808
490 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA5295042
rs781085034
490 G>R No ClinGen
ExAC
gnomAD
rs1260665570
CA375311932
491 E>A No ClinGen
gnomAD
rs559508150
CA200766373
CA5295040
492 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778402863
CA5295039
494 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA5295038
rs368775480
496 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5295037
rs377754261
498 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA200766334
rs529003708
500 P>Q No ClinGen
1000Genomes
rs765844937
CA5295033
502 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767437239
CA200766308
505 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs767437239
CA5295030
505 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs761600285
CA5295029
505 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA5295026
rs746039033
506 P>S No ClinGen
ExAC
gnomAD
rs771184846
CA5295024
509 A>G No ClinGen
ExAC
gnomAD
rs1306924901
CA375311655
509 A>P No ClinGen
TOPMed
CA375311645
rs1370496429
510 I>V No ClinGen
TOPMed
CA5295023
rs747075977
511 L>V No ClinGen
ExAC
gnomAD
rs757194093
CA200766267
512 P>A No ClinGen
TOPMed
rs1266991920
CA375311617
512 P>L No ClinGen
TOPMed
gnomAD
rs757194093
CA375311622
512 P>S No ClinGen
TOPMed
CA375311615
rs1294389521
513 F>I No ClinGen
TOPMed
rs985991825
CA200766261
513 F>L No ClinGen
TOPMed
gnomAD
rs577538218
CA5295020
514 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA5295019
rs62636643
514 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5295018
rs755335903
515 H>R No ClinGen
ExAC
gnomAD
CA5295017
rs200547421
517 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375311523
rs1382219909
517 G>S No ClinGen
gnomAD
rs779664732
CA375311470
521 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA375311462
rs1389445050
521 P>L No ClinGen
gnomAD
rs779664732
CA5295016
521 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5295014
rs749868886
523 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749868886
CA375311443
523 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1165151267
CA375311395
524 F>S No ClinGen
gnomAD
rs761688026
CA5295012
527 D>N No ClinGen
ExAC
gnomAD
CA375311306
rs1564557641
529 T>A No ClinGen
Ensembl
CA5295011
rs751402679
529 T>I No ClinGen
ExAC
TOPMed
gnomAD
COSM263252
rs763837636
CA5295010
530 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs191870237
CA5295009
531 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1246828402
CA375311276
531 P>L No ClinGen
gnomAD
rs191870237
CA5295008
531 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760846647
CA5295006
533 S>A No ClinGen
ExAC
gnomAD
rs201432710
CA5295005
533 S>L No ClinGen
1000Genomes
ExAC
TCGA novel 533 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375311199
rs1267761747
534 T>I No ClinGen
gnomAD
rs372117592
CA5295003
535 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5295001
rs768955871
536 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs958069621
CA200766206
537 P>A No ClinGen
Ensembl
rs1482131475
CA375311157
537 P>Q No ClinGen
Ensembl
CA375311137
rs1230847799
538 E>G No ClinGen
gnomAD
CA375311109
rs1366239482
539 K>N No ClinGen
gnomAD
CA200766203
rs368355023
540 P>L No ClinGen
ESP
TOPMed
CA352156
rs869025251
RCV001093195
RCV000208572
554 Y>C No ClinGen
ClinVar
Ensembl
dbSNP
rs1377669569
CA375309969
555 M>I No ClinGen
gnomAD
rs1480368547
CA375309894
560 D>N No ClinGen
gnomAD
TCGA novel 562 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5294980
rs769467724
562 S>L No ClinGen
ExAC
gnomAD
CA5294977
rs139919312
568 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs919781198
CA200758122
568 M>T No ClinGen
TOPMed
gnomAD
rs370392666
CA5294978
568 M>V No ClinGen
ESP
ExAC
gnomAD
rs1321249130
CA375309740
569 F>L No ClinGen
gnomAD
CA5294975
rs777579169
COSM379492
572 T>M lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1215744673
CA375309658
574 Q>P No ClinGen
gnomAD
COSM1223138
CA5294972
rs765088141
576 E>K large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA5294971
rs754794549
578 I>M No ClinGen
ExAC
gnomAD
CA5294970
rs750728410
580 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA5294969
rs767773354
581 Q>* No ClinGen
ExAC
gnomAD
rs571623744
CA5294968
581 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs774429776
CA5294967
582 K>R No ClinGen
ExAC
gnomAD
rs546552596
CA5294966
584 K>* No ClinGen
1000Genomes
ExAC
gnomAD
rs374511827
CA5294965
584 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1444279877
CA375309544
585 L>F No ClinGen
gnomAD
CA375309539
rs1257125956
585 L>R No ClinGen
gnomAD
CA375309536
rs1203348686
586 L>F No ClinGen
gnomAD
rs776335041
CA5294961
593 S>G No ClinGen
ExAC
gnomAD
rs746517464
CA5294959
594 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA375309445
rs1340635093
595 S>P No ClinGen
TOPMed
gnomAD
TCGA novel 595 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA200758029
rs960381402
596 F>V No ClinGen
Ensembl
CA375309402
rs1588517843
599 V>G No ClinGen
Ensembl
TCGA novel 599 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375309392
rs1588517779
600 D>A No ClinGen
Ensembl
CA375309382
rs1390182147
601 S>A No ClinGen
gnomAD
rs777292477
CA5294958
COSM226225
601 S>F NS [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1157121826
CA375309373
602 V>E No ClinGen
gnomAD
rs376953220
COSM220535
CA5294956
602 V>L haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376953220
CA5294955
602 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 605 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs955462283
CA200758017
605 L>P No ClinGen
TOPMed
gnomAD
rs754884637
CA5294954
606 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA375309334
rs1321952000
606 A>T No ClinGen
TOPMed
CA375309327
rs754884637
606 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA5294952
rs184030691
607 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753616962
CA5294953
607 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA5294950
rs751622230
608 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 610 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372758833
CA5294947
610 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375309274
rs1290830531
612 P>S No ClinGen
gnomAD
rs368994640
CA5294946
613 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374656307
CA5294943
613 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374656307
CA5294944
613 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374656307
CA200757966
613 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375309266
rs368994640
613 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5294945
rs368994640
613 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 614 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 614 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375309229
rs1429415937
616 R>Q No ClinGen
TOPMed
gnomAD
rs1039814378
CA200757951
616 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA375309216
rs1324238144
617 Q>H No ClinGen
gnomAD
rs1430758682
CA375306093
620 P>T No ClinGen
gnomAD
CA5294786
rs369085148
621 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754123984
CA5294787
621 P>S No ClinGen
ExAC
gnomAD
CA375306085
rs1271567352
622 A>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA375306073
rs1223442471
624 K>E No ClinGen
gnomAD
CA5294784
rs773323616
625 D>N No ClinGen
ExAC
gnomAD
rs762417571
CA375306057
626 G>* No ClinGen
ExAC
TOPMed
gnomAD
CA5294782
rs762417571
COSM1460656
626 G>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA200741173
rs953035806
627 H>Y No ClinGen
Ensembl
rs769024353
CA5294780
630 D>E No ClinGen
ExAC
gnomAD
rs200325234
CA5294781
630 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs868392769
CA200741145
632 S>L No ClinGen
Ensembl
CA375306014
rs1479937410
633 A>T No ClinGen
TOPMed
CA5294779
rs763331030
633 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA375306005
rs1388153533
635 S>R No ClinGen
TOPMed
gnomAD
CA375306002
rs1299590678
635 S>T No ClinGen
TOPMed
gnomAD
rs780721685
CA5294775
636 G>S No ClinGen
ExAC
gnomAD
CA5294773
rs368950632
637 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA200741097
rs201097012
638 P>A No ClinGen
1000Genomes
rs1200605241
CA375305979
639 G>E No ClinGen
TOPMed
gnomAD
rs1365034327
CA375305982
639 G>R No ClinGen
TOPMed
CA375305968
rs1325710252
641 D>N No ClinGen
TOPMed
rs201807326
CA5294770
645 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs867940275
CA200737428
650 P>L No ClinGen
Ensembl
CA5294740
rs759759500
652 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA5294739
rs776348528
653 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1406924331
CA375305486
653 P>R No ClinGen
gnomAD
TCGA novel 655 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770482705
CA5294738
658 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA375305446
rs1564485501
659 A>V No ClinGen
Ensembl
CA375305432
rs1398777998
661 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5294734
rs376973789
662 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5294732
rs568729278
664 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs749035368
CA5294731
665 V>M No ClinGen
ExAC
gnomAD
CA5294730
rs368125666
666 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758422845
CA5294727
669 S>F No ClinGen
ExAC
gnomAD
CA5294726
rs758422845
669 S>Y No ClinGen
ExAC
gnomAD
rs765595015
CA5294724
671 I>T No ClinGen
ExAC
gnomAD
rs375201366
CA5294725
671 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1588305767
CA375305328
672 D>N No ClinGen
Ensembl
CA5294721
rs371887703
674 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755435700
CA5294723
674 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1368828475
CA375305279
675 E>K No ClinGen
gnomAD
CA5294720
rs760368599
677 M>I No ClinGen
ExAC
rs199924207
CA5294719
678 S>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1434641975
CA375305219
679 R>K No ClinGen
gnomAD
rs767153483
CA5294718
COSM1106182
681 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754152078
CA200737259
684 Q>R No ClinGen
TOPMed
gnomAD
CA375304985
rs200827749
688 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1184056906
CA375304991
688 D>N No ClinGen
gnomAD
rs1237192107
CA375304978
COSM1187837
689 G>E lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA375304983
rs1164172369
689 G>R No ClinGen
TOPMed
CA375304972
rs1208472926
690 P>L No ClinGen
gnomAD
CA375304963
rs1239760823
692 V>I No ClinGen
gnomAD
rs1351541945
CA375304955
693 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1028514518
CA200735808
693 R>H No ClinGen
Ensembl
COSM752497
CA5294697
rs369218533
694 G>R lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA375304928
rs1432634090
698 D>N No ClinGen
TOPMed
gnomAD
rs940057478
CA200735761
703 H>R No ClinGen
TOPMed
rs1164868347
CA375304844
710 K>R No ClinGen
gnomAD
rs992772220
CA200732178
714 L>V No ClinGen
TOPMed
gnomAD
CA375304790
rs1192036288
716 C>Y No ClinGen
gnomAD
rs988737362
CA200732160
717 E>K No ClinGen
Ensembl
CA5294674
rs372510751
727 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1257127843
CA375304701
729 P>L No ClinGen
gnomAD
CA375304683
rs1300358842
732 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1588231523
CA375319984
743 F>S No ClinGen
Ensembl
CA375319976
rs1228127493
744 S>F No ClinGen
TOPMed
gnomAD
CA375319969
rs1306496768
745 P>L No ClinGen
TOPMed
gnomAD
CA375319970
rs1306496768
745 P>R No ClinGen
TOPMed
gnomAD
rs1237430572
CA375319960
747 A>T No ClinGen
gnomAD
rs758043616
CA5294642
748 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs747693845
CA5294641
749 T>I No ClinGen
ExAC
gnomAD
rs778421691
CA5294640
750 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA375319916
rs1433811488
753 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5294639
rs143030441
754 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5294637
rs766304131
761 V>M No ClinGen
ExAC
gnomAD
CA5294636
rs755922066
764 R>P No ClinGen
ExAC
CA375319846
rs1473850902
764 R>W No ClinGen
gnomAD
rs1369459647
CA375319838
765 V>A No ClinGen
TOPMed
rs1224105903
CA375319781
772 V>L No ClinGen
gnomAD
CA200787670
rs775927809
783 M>I No ClinGen
gnomAD
CA375319706
rs1196263711
783 M>T No ClinGen
gnomAD
rs752971371
CA5294613
785 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs765550864
CA5294612
787 F>L No ClinGen
ExAC
gnomAD
CA200787664
rs867363663
788 R>C No ClinGen
Ensembl
rs759745627
CA5294611
788 R>H No ClinGen
ExAC
gnomAD
CA375319657
rs1478168688
791 C>F No ClinGen
gnomAD
rs766831810
CA5294609
792 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs766831810
CA375319651
792 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs769327719
CA200787650
793 G>A No ClinGen
Ensembl
CA5294608
rs761273448
793 G>R No ClinGen
ExAC
gnomAD
rs573406136
CA200787634
799 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs911552282
CA200787631
799 R>H No ClinGen
TOPMed
gnomAD
rs1437564472
CA375319584
803 K>N No ClinGen
gnomAD
CA375319543
rs1588220917
809 V>G No ClinGen
Ensembl
CA5294604
rs774052892
819 T>P No ClinGen
ExAC
gnomAD
CA5294603
rs768277849
820 S>P No ClinGen
ExAC
gnomAD
CA375319454
rs1564462107
822 Q>R No ClinGen
Ensembl
rs1379257303
CA375319448
823 P>S No ClinGen
gnomAD
TCGA novel 825 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748839074
CA5294602
825 A>V No ClinGen
ExAC
gnomAD
COSM3942925
CA5294601
COSM3942926
rs779647493
827 R>Q oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA5294597
rs757183979
828 G>E No ClinGen
ExAC
gnomAD
rs539844465
CA5294598
CA5294600
828 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM3367608
CA5294599
COSM76165
rs539844465
828 G>W kidney ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 829 V>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1588220518
CA375319417
829 V>G No ClinGen
Ensembl
rs369423823
CA5294568
833 P>L No ClinGen
ESP
ExAC
gnomAD
rs865972904
CA200786765
835 T>I No ClinGen
Ensembl
CA5294565
rs764782256
835 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1406763541
CA375319360
837 H>Y No ClinGen
TOPMed
CA375319354
rs1297268999
838 D>N No ClinGen
gnomAD
CA200786755
rs75325491
840 H>P No ClinGen
ExAC
gnomAD
CA5294564
rs75325491
840 H>R No ClinGen
ExAC
gnomAD
rs1055367249
CA200786746
842 H>Y No ClinGen
gnomAD
CA375319306
rs1417507027
844 I>T No ClinGen
gnomAD
CA375319272
rs1264133929
849 T>K No ClinGen
gnomAD
TCGA novel 849 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 854 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375319210
rs1484906151
858 K>I No ClinGen
gnomAD
rs773346882
CA5294540
861 I>N No ClinGen
ExAC
gnomAD
rs771884949
CA5294539
862 P>S No ClinGen
ExAC
TOPMed
CA375319160
rs1564459015
864 V>I No ClinGen
Ensembl
CA375319086
rs1440239207
874 E>K No ClinGen
gnomAD
rs1279830486
CA375319071
875 K>N No ClinGen
gnomAD
CA375319043
rs1256191641
879 L>F No ClinGen
gnomAD
CA5294531
rs747078700
880 T>N No ClinGen
ExAC
gnomAD
CA5294532
rs747078700
880 T>S No ClinGen
ExAC
gnomAD
CA375319030
rs1310819098
881 Q>H No ClinGen
gnomAD
TCGA novel 881 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5294530
rs778299269
883 T>M No ClinGen
ExAC
gnomAD
COSM1460650
CA5294503
rs779896256
894 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA200783889
CA200783914
rs376105574
896 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs376105574
CA5294502
896 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1220607875
CA375318901
898 M>L No ClinGen
TOPMed
CA375318881
rs1194000623
900 Q>H No ClinGen
gnomAD
CA5294498
rs751517782
908 R>Q No ClinGen
ExAC
gnomAD
rs761320676
CA5294499
908 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764080164
CA5294497
910 L>V No ClinGen
ExAC
gnomAD
CA375318789
rs1280311083
914 I>V No ClinGen
TOPMed
gnomAD
CA375318779
rs1228470480
915 K>R No ClinGen
gnomAD
rs762787224
CA5294496
916 I>V No ClinGen
ExAC
gnomAD
TCGA novel 917 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775232200
CA5294495
917 M>R No ClinGen
ExAC
gnomAD
CA375318738
rs1588164925
919 H>P No ClinGen
Ensembl
rs776078057
CA5294467
920 L>S No ClinGen
ExAC
gnomAD
rs767298603
CA200783663
921 R>Q No ClinGen
Ensembl
rs770350719
CA5294466
924 N>K No ClinGen
ExAC
gnomAD
rs1588164788
CA375318684
927 N>T No ClinGen
Ensembl
CA5294465
rs746232087
929 Y>* No ClinGen
ExAC
gnomAD
CA375318636
rs1335727242
934 S>C No ClinGen
TOPMed
gnomAD
rs756905802
CA5294463
936 L>V No ClinGen
ExAC
gnomAD
rs1171186761
CA375318613
938 S>L No ClinGen
gnomAD
rs1178338998
CA375318599
940 P>L No ClinGen
gnomAD
CA5294459
rs752635664
942 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs765150170
CA5294458
945 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs374657058
CA200783621
946 W>R No ClinGen
ESP
CA5294457
rs754822064
950 T>I No ClinGen
ExAC
gnomAD
CA5294421
rs200617402
953 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1420564646
CA375318496
954 L>P No ClinGen
gnomAD
CA375318488
rs1266562115
COSM1460649
956 E>K large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA375318477
rs1254793885
957 Y>C No ClinGen
gnomAD
CA375318459
rs1428994765
959 T>R No ClinGen
TOPMed
rs1294484367
CA375318444
962 D>N No ClinGen
TOPMed
gnomAD
CA375318417
rs1588152245
966 S>P No ClinGen
Ensembl
CA375318408
rs1588152213
967 F>S No ClinGen
Ensembl
rs778182003
CA5294412
968 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1588152185
CA375318390
970 Y>S No ClinGen
Ensembl
CA5294409
rs553644640
973 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5294408
rs553644640
973 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA375318363
rs1408231290
975 S>A No ClinGen
gnomAD
CA5294406
rs766783431
975 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA375318354
rs1190503702
976 E>D No ClinGen
TOPMed
rs370258316
CA5294404
979 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 980 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375318315
rs1480857489
982 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1588151866
CA375318303
984 Y>S No ClinGen
Ensembl
rs774743047
CA200781129
994 F>S No ClinGen
Ensembl
CA375318222
rs1290515064
995 V>I No ClinGen
gnomAD
TCGA novel 996 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375961565
CA5294373
1000 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375961565
CA375318191
1000 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA200781114
rs769869009
1002 Y>C No ClinGen
Ensembl
CA5294372
rs749485743
1003 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA5294371
rs552540191
1004 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372628000
CA5294369
1005 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375318133
rs141308173
1008 N>K No ClinGen
1000Genomes
ExAC
gnomAD
VAR_069375 1012 R>Q found in a patient with intellectual disability, frontal epilepsy and mild facial dysmorphism [UniProt] No UniProt
rs1263228763
CA375318108
1012 R>W No ClinGen
gnomAD
CA200781082
rs1049121740
1017 N>S No ClinGen
TOPMed
gnomAD
TCGA novel 1020 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775152902
CA5294363
1023 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764842655
CA375317986
1028 A>E No ClinGen
ExAC
gnomAD
rs764842655
CA5294362
1028 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA375317954
rs1280452509
1031 D>N No ClinGen
TOPMed
CA375317942
rs1352304047
1032 M>I No ClinGen
TOPMed
CA375317945
rs1403459276
1032 M>L No ClinGen
gnomAD
CA5294345
rs758725232
1032 M>T No ClinGen
ExAC
gnomAD
CA200780611
rs752356616
1033 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5294343
rs150811948
1033 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5294344
rs752356616
1033 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753363267
CA5294341
1036 D>Y No ClinGen
ExAC
gnomAD
rs773142962
CA5294338
1040 N>S No ClinGen
ExAC
gnomAD
rs771831646
CA5294337
1042 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA375317868
rs1275318770
1043 N>S No ClinGen
TOPMed
gnomAD
CA375317846
rs1196633707
1046 S>G No ClinGen
gnomAD
CA375317801
rs1194753581
1052 E>A No ClinGen
TOPMed
rs1045465010
CA200780574
1056 E>K No ClinGen
Ensembl
TCGA novel 1057 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5294334
rs769972842
1064 R>K No ClinGen
ExAC
gnomAD
CA200780522
rs912981556
1066 I>K No ClinGen
Ensembl
CA375317710
rs1433995285
1066 I>L No ClinGen
TOPMed
gnomAD
rs781276426
CA5294331
1071 T>K No ClinGen
ExAC
CA5294330
rs770943992
1072 D>E No ClinGen
ExAC
gnomAD
COSM1460647
rs34330901
CA5294328
1073 R>Q large_intestine Variant assessed as Somatic; 4.642e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1460648
rs747478083
CA5294329
1073 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753080477
CA5294326
1075 E>G No ClinGen
ExAC
gnomAD
CA375317639
rs1172528247
1076 K>N No ClinGen
gnomAD
CA200780467
rs894426015
1078 T>Q No ClinGen
TOPMed

No associated diseases with Q13905

3 regional properties for Q13905

Type Name Position InterPro Accession
domain Zinc finger C2H2-type 175 - 202 IPR013087-1
domain Zinc finger C2H2-type 203 - 230 IPR013087-2
domain Zinc finger C2H2-type 231 - 258 IPR013087-3

Functions

Description
EC Number
Subcellular Localization
  • Early endosome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name Definition
guanyl-nucleotide exchange factor activity Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
SH3 domain binding Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.

12 GO annotations of biological process

Name Definition
cellular response to cAMP Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus.
cellular response to nerve growth factor stimulus A process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nerve growth factor stimulus.
establishment of endothelial barrier The establishment of a barrier between endothelial cell layers, such as those in the brain, lung or intestine, to exert specific and selective control over the passage of water and solutes, thus allowing formation and maintenance of compartments that differ in fluid and solute composition.
nerve growth factor signaling pathway The series of molecular signals initiated by nerve growth factor (NGF) binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
positive regulation of GTPase activity Any process that activates or increases the activity of a GTPase.
positive regulation of neuron projection development Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
Rap protein signal transduction The series of molecular signals within the cell that are mediated by a member of the Rap family of proteins switching to a GTP-bound active state.
Ras protein signal transduction The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
regulation of cell junction assembly Any process that modulates the frequency, rate or extent of cell junction assembly.
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.
transmembrane receptor protein tyrosine kinase signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.

30 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A6N9I4 RASGRP2 RAS guanyl-releasing protein 2 Bos taurus (Bovine) SS
Q1LZ97 RASGRP4 RAS guanyl-releasing protein 4 Bos taurus (Bovine) SS
A0A3S5ZPR1 RASGRP3 RAS guanyl releasing protein 3 Gallus gallus (Chicken) SS
P26675 Sos Protein son of sevenless Drosophila melanogaster (Fruit fly) SS
Q07890 SOS2 Son of sevenless homolog 2 Homo sapiens (Human) SS
Q07889 SOS1 Son of sevenless homolog 1 Homo sapiens (Human) EV
O95398 RAPGEF3 Rap guanine nucleotide exchange factor 3 Homo sapiens (Human) EV
Q8WZA2 RAPGEF4 Rap guanine nucleotide exchange factor 4 Homo sapiens (Human) SS
Q8N431 RASGEF1C Ras-GEF domain-containing family member 1C Homo sapiens (Human) PR
Q8N9B8 RASGEF1A Ras-GEF domain-containing family member 1A Homo sapiens (Human) PR
Q8IZJ4 RGL4 Ral-GDS-related protein Homo sapiens (Human) PR
Q12967 RALGDS Ral guanine nucleotide dissociation stimulator Homo sapiens (Human) PR
O95267 RASGRP1 RAS guanyl-releasing protein 1 Homo sapiens (Human) EV
Q8TDF6 RASGRP4 RAS guanyl-releasing protein 4 Homo sapiens (Human) SS
Q7LDG7 RASGRP2 RAS guanyl-releasing protein 2 Homo sapiens (Human) EV SS
Q8IV61 RASGRP3 Ras guanyl-releasing protein 3 Homo sapiens (Human) SS
Q86X27 RALGPS2 Ras-specific guanine nucleotide-releasing factor RalGPS2 Homo sapiens (Human) PR
Q5JS13 RALGPS1 Ras-specific guanine nucleotide-releasing factor RalGPS1 Homo sapiens (Human) PR
A2AR50 Ralgps1 Ras-specific guanine nucleotide-releasing factor RalGPS1 Mus musculus (Mouse) PR
Q8BTM9 Rasgrp4 RAS guanyl-releasing protein 4 Mus musculus (Mouse) SS
Q9Z1S3 Rasgrp1 RAS guanyl-releasing protein 1 Mus musculus (Mouse) SS
Q9QUG9 Rasgrp2 RAS guanyl-releasing protein 2 Mus musculus (Mouse) SS
Q9ERD6 Ralgps2 Ras-specific guanine nucleotide-releasing factor RalGPS2 Mus musculus (Mouse) PR
Q02384 Sos2 Son of sevenless homolog 2 Mus musculus (Mouse) SS
Q62245 Sos1 Son of sevenless homolog 1 Mus musculus (Mouse) SS
Q9R1K8 Rasgrp1 RAS guanyl-releasing protein 1 Rattus norvegicus (Rat) SS
P0C643 Rasgrp2 RAS guanyl-releasing protein 2 Rattus norvegicus (Rat) SS
Q8R5I4 Rasgrp4 RAS guanyl-releasing protein 4 Rattus norvegicus (Rat) SS
Q9N5D3 sos-1 Son of sevenless homolog Caenorhabditis elegans EV
A4IJ06 rasgrp1 RAS guanyl-releasing protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) SS
10 20 30 40 50 60
MDTDSQRSHL SSFTMKLMDK FHSPKIKRTP SKKGKPAEVS VKIPEKPVNK EATDRFLPEG
70 80 90 100 110 120
YPLPLDLEQQ AVEFMSTSAV ASRSQRQKNL SWLEEKEKEV VSALRYFKTI VDKMAIDKKV
130 140 150 160 170 180
LEMLPGSASK VLEAILPLVQ NDPRIQHSSA LSSCYSRVYQ SLANLIRWSD QVMLEGVNSE
190 200 210 220 230 240
DKEMVTTVKG VIKAVLDGVK ELVRLTIEKQ GRPSPTSPVK PSSPASKPDG PAELPLTDRE
250 260 270 280 290 300
VEILNKTTGM SQSTELLPDA TDEEVAPPKP PLPGIRVVDN SPPPALPPKK RQSAPSPTRV
310 320 330 340 350 360
AVVAPMSRAT SGSSLPVGIN RQDFDVDCYA QRRLSGGSHS YGGESPRLSP CSSIGKLSKS
370 380 390 400 410 420
DEQLSSLDRD SGQCSRNTSC ETLDHYDPDY EFLQQDLSNA DQIPQQTAWN LSPLPESLGE
430 440 450 460 470 480
SGSPFLGPPF QLPLGGHPQP DGPLAPGQQT DTPPALPEKK RRSAASQTAD GSGCRVSYER
490 500 510 520 530 540
HPSQYDNISG EDLQSTAPIP SVPYAPFAAI LPFQHGGSSA PVEFVGDFTA PESTGDPEKP
550 560 570 580 590 600
PPLPEKKNKH MLAYMQLLED YSEPQPSMFY QTPQNEHIYQ QKNKLLMEVY GFSDSFSGVD
610 620 630 640 650 660
SVQELAPPPA LPPKQRQLEP PAGKDGHPRD PSAVSGVPGK DSRDGSERAP KSPDALESAQ
670 680 690 700 710 720
SEEEVDELSL IDHNEIMSRL TLKQEGDDGP DVRGGSGDIL LVHATETDRK DLVLYCEAFL
730 740 750 760 770 780
TTYRTFISPE ELIKKLQYRY EKFSPFADTF KKRVSKNTFF VLVRVVDELC LVELTEEILK
790 800 810 820 830 840
LLMELVFRLV CNGELSLARV LRKNILDKVD QKKLLRCATS SQPLAARGVA ARPGTLHDFH
850 860 870 880 890 900
SHEIAEQLTL LDAELFYKIE IPEVLLWAKE QNEEKSPNLT QFTEHFNNMS YWVRSIIMLQ
910 920 930 940 950 960
EKAQDRERLL LKFIKIMKHL RKLNNFNSYL AILSALDSAP IRRLEWQKQT SEGLAEYCTL
970 980 990 1000 1010 1020
IDSSSSFRAY RAALSEVEPP CIPYLGLILQ DLTFVHLGNP DYIDGKVNFS KRWQQFNILD
1030 1040 1050 1060 1070
SMRCFQQAHY DMRRNDDIIN FFNDFSDHLA EEALWELSLK IKPRNITRRK TDREEKT