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 Q86X27

Entry ID Method Resolution Chain Position Source
AF-Q86X27-F1 Predicted AlphaFoldDB

372 variants for Q86X27

Variant ID(s) Position Change Description Diseaes Association Provenance
CA343835630
rs1572320308
2 D>A No ClinGen
Ensembl
rs754899009
CA1262785
3 L>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA343835636
rs1364789654
3 L>V No ClinGen
TOPMed
rs779009893
CA1262786
4 M>V No ClinGen
ExAC
gnomAD
CA343835655
rs139533001
CA1262788
6 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA343835664
rs1249482932
7 Q>R No ClinGen
gnomAD
CA1262790
rs747177568
9 S>N No ClinGen
ExAC
gnomAD
CA1262791
rs771166946
10 S>T No ClinGen
ExAC
gnomAD
rs745958556
CA1262793
12 N>S No ClinGen
ExAC
gnomAD
CA1262794
rs769918061
13 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA343835702
rs1176520075
13 I>V No ClinGen
gnomAD
CA343835707
rs1460102100
14 A>T No ClinGen
gnomAD
CA343835712
rs1558114586
14 A>V No ClinGen
Ensembl
rs183957608
CA1262795
16 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs560285002
CA1262796
16 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1289253355
CA343515634
20 K>E No ClinGen
gnomAD
rs1358671526
CA343515637
20 K>R No ClinGen
gnomAD
TCGA novel 22 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1333283303
CA343515716
24 S>P No ClinGen
gnomAD
CA343515753
rs1223085650
26 S>Y No ClinGen
gnomAD
CA1262810
rs529516438
28 S>I No ClinGen
1000Genomes
ExAC
gnomAD
CA1262809
rs529516438
28 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA343515888
rs1185416573
30 K>N No ClinGen
gnomAD
rs945138305
CA33580659
31 G>S No ClinGen
TOPMed
rs769834079
CA1262811
32 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA33580665
rs368406720
33 E>D No ClinGen
ESP
TOPMed
TCGA novel 35 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1262812
rs780230074
36 K>E No ClinGen
ExAC
gnomAD
rs749705155
CA1262813
36 K>T No ClinGen
ExAC
gnomAD
rs769233313
CA1262814
37 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA343516098
rs1164816307
41 V>M No ClinGen
gnomAD
CA343516140
rs1352110669
43 F>S No ClinGen
gnomAD
rs748539541
CA1262816
44 D>N Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1262817
rs748539541
44 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1362938233
CA343516236
49 T>I No ClinGen
gnomAD
TCGA novel 55 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1438947899
CA343516515
55 G>S No ClinGen
TOPMed
rs1373533429
CA343516561
56 Q>H No ClinGen
TOPMed
CA343516567
rs773765796
57 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs773765796
CA1262839
57 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA33580977
rs1019944068
59 L>F No ClinGen
Ensembl
rs1262193665
CA343516688
61 D>G No ClinGen
gnomAD
rs1201204431
CA343516672
61 D>N No ClinGen
gnomAD
TCGA novel 62 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1262841
rs769517660
62 V>I No ClinGen
ExAC
gnomAD
rs1204726834
CA343516714
63 P>L No ClinGen
gnomAD
CA1262842
rs533561189
67 A>D No ClinGen
1000Genomes
ExAC
gnomAD
CA1262843
rs553341800
68 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1199118039
CA343516893
70 P>S No ClinGen
gnomAD
rs567269357
CA1262844
71 D>H No ClinGen
1000Genomes
ExAC
gnomAD
CA1262845
rs774239123
71 D>V No ClinGen
ExAC
gnomAD
rs771997052
CA1262867
74 S>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 74 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1417233259
CA343522619
77 G>R No ClinGen
TOPMed
TCGA novel 81 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1437964597
CA343522723
82 E>G No ClinGen
gnomAD
rs1170111994
CA343522714
82 E>K No ClinGen
TOPMed
CA343522740
rs1408576739
83 K>Q No ClinGen
TOPMed
CA343522814
rs1572353081
87 A>T No ClinGen
Ensembl
rs760502789
CA1262869
88 P>L No ClinGen
ExAC
gnomAD
rs760502789
CA1262870
88 P>Q No ClinGen
ExAC
gnomAD
rs75584817
CA1262871
89 N>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1572353101
CA343522870
90 A>G No ClinGen
Ensembl
rs765363891
CA1262873
91 V>F No ClinGen
ExAC
gnomAD
CA33591655
rs955891342
98 N>D No ClinGen
Ensembl
rs956908856
CA33591661
98 N>S No ClinGen
TOPMed
gnomAD
CA1262875
rs758909193
99 H>R No ClinGen
ExAC
gnomAD
CA343523612
rs1282632782
100 V>I No ClinGen
TOPMed
rs1330720337
CA343523783
108 I>V No ClinGen
TOPMed
rs760571571
CA343523810
110 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA1262889
rs760571571
110 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1330862520
CA343523944
117 R>S No ClinGen
TOPMed
rs1410320963
CA343523962
119 E>V No ClinGen
TOPMed
CA343524010
rs1383560851
122 S>G No ClinGen
TOPMed
gnomAD
rs752768831
CA1262894
124 Y>C No ClinGen
ExAC
gnomAD
CA343524068
rs1446040290
126 K>* No ClinGen
TOPMed
rs1385500528
CA343524089
127 T>I No ClinGen
TOPMed
rs1265194654
CA343525624
130 K>E No ClinGen
TOPMed
CA343525703
rs1327506943
134 L>R No ClinGen
gnomAD
rs1488700503
CA343525705
135 N>H No ClinGen
TOPMed
rs1335686705
CA343525711
135 N>S No ClinGen
TOPMed
gnomAD
CA1262912
rs373250030
137 L>P No ClinGen
ESP
ExAC
gnomAD
rs745672599
CA1262913
CA33599441
138 H>Q No ClinGen
ExAC
gnomAD
rs1223086222
CA343525814
140 L>V No ClinGen
gnomAD
rs1036478651
CA33599448
141 M>I No ClinGen
TOPMed
rs775853168
CA1262915
149 S>T No ClinGen
ExAC
gnomAD
rs1193843751
CA343525976
COSM224820
150 A>V skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA1262917
rs764219449
151 P>A No ClinGen
ExAC
gnomAD
rs774324563
CA1262918
152 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA343526062
rs1304081907
156 T>I No ClinGen
TOPMed
rs935741792
CA33599483
160 A>V No ClinGen
gnomAD
CA1262931
rs769688462
161 L>F No ClinGen
ExAC
TCGA novel 164 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343529668
rs1490060494
164 R>G No ClinGen
gnomAD
CA1262932
rs775446560
164 R>Q No ClinGen
ExAC
rs779308103
CA1262933
167 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA1262934
rs768764029
168 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA1262935
rs774427590
168 T>I No ClinGen
ExAC
rs1361577246
CA343529752
169 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs372827241
CA1262936
169 T>I No ClinGen
ESP
ExAC
gnomAD
CA33605190
rs994515417
170 F>L No ClinGen
TOPMed
rs1191519056
CA343529774
171 E>G No ClinGen
gnomAD
rs773558199
CA1262938
177 M>I No ClinGen
ExAC
gnomAD
CA343529850
rs1171085415
178 S>T No ClinGen
gnomAD
rs1364237796
CA343529865
180 E>K No ClinGen
gnomAD
CA1262939
rs751063535
183 Y>* No ClinGen
ExAC
gnomAD
rs1294117234
CA343529891
183 Y>C No ClinGen
gnomAD
rs138528833
CA1262940
184 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1295089642
CA343529904
185 R>K No ClinGen
gnomAD
rs140883827
CA1262942
190 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1572379702
CA343529954
192 S>G No ClinGen
Ensembl
TCGA novel 194 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs983908564
CA33605241
194 K>R No ClinGen
Ensembl
rs1358563506
CA343529979
195 M>R No ClinGen
gnomAD
CA1262943
rs754235227
195 M>V No ClinGen
ExAC
gnomAD
CA33605261
rs954289506
196 T>A No ClinGen
TOPMed
gnomAD
CA1262944
rs757982920
201 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1191428641
CA343530030
202 L>I No ClinGen
TOPMed
rs1355449237
CA343531860
204 I>V No ClinGen
TOPMed
TCGA novel 208 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1263303
rs753527124
210 T>I No ClinGen
ExAC
rs961943927
CA343531983
213 D>H No ClinGen
TOPMed
gnomAD
CA33597833
rs961943927
213 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs561069653
CA1263308
220 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1362475250
CA343532046
221 S>G No ClinGen
gnomAD
VAR_039468
rs35161510
CA1263310
225 N>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA1263311
rs781536253
230 N>S No ClinGen
ExAC
gnomAD
rs1432958289
CA343532117
231 L>V No ClinGen
gnomAD
rs1312301072
CA343532143
234 N>S No ClinGen
gnomAD
CA1263312
rs746154442
235 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs1327086668
CA343532153
235 I>M No ClinGen
gnomAD
CA343532151
rs1416908628
235 I>T No ClinGen
gnomAD
rs746154442
CA343532148
235 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA1263333
rs746041179
249 D>G No ClinGen
ExAC
gnomAD
CA33598640
rs970602719
250 I>S No ClinGen
TOPMed
rs970602719
CA33598645
250 I>T No ClinGen
TOPMed
CA1263334
rs756367569
252 M>V No ClinGen
ExAC
gnomAD
rs1315562591
CA343532422
254 P>S No ClinGen
TOPMed
CA343532509
rs1219836877
260 L>F No ClinGen
TOPMed
CA343532526
rs1355348354
261 N>D No ClinGen
TOPMed
CA343532545
rs1467404848
263 V>I No ClinGen
gnomAD
CA1263336
rs749379360
265 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 268 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1263339
rs748675258
270 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1000700184
CA33598684
274 E>D No ClinGen
TOPMed
rs1171455058
CA343532724
276 D>A No ClinGen
TOPMed
CA1263340
rs772384760
276 D>N No ClinGen
ExAC
gnomAD
rs1171455058
CA343532726
276 D>V No ClinGen
TOPMed
TCGA novel 276 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1032537410
CA33598691
279 K>R No ClinGen
TOPMed
gnomAD
TCGA novel 280 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343532876
rs1463492647
286 P>A No ClinGen
TOPMed
TCGA novel 287 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748587348
CA1263357
289 S>G No ClinGen
ExAC
gnomAD
rs1013742307
CA33604773
290 T>A No ClinGen
gnomAD
rs1269877762
CA343532910
291 P>L No ClinGen
TOPMed
rs781045286
CA1263358
292 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1263359
rs376507694
292 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA343532919
rs1294330725
293 S>F No ClinGen
gnomAD
CA343532922
rs1214353129
294 A>P No ClinGen
gnomAD
rs771241252
CA1263362
295 A>P No ClinGen
ExAC
gnomAD
rs771241252
CA1263361
295 A>T No ClinGen
ExAC
gnomAD
rs1486238202
CA343532937
297 R>G No ClinGen
gnomAD
CA1263363
rs762719313
298 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA343532956
rs1485446607
299 D>G No ClinGen
gnomAD
rs1188887996
CA343532962
300 L>S No ClinGen
gnomAD
CA343532960
rs1386801126
300 L>V No ClinGen
gnomAD
rs1479541594
CA343533324
304 E>K No ClinGen
gnomAD
CA33605619
rs1025199782
305 V>A No ClinGen
Ensembl
rs1176359381
CA343533343
305 V>I No ClinGen
TOPMed
gnomAD
CA33605620
rs984768061
306 G>V No ClinGen
TOPMed
gnomAD
CA1263379
rs61758797
307 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1434796893
CA343533453
312 G>E No ClinGen
gnomAD
CA33605635
rs943234484
313 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1263381
COSM137791
rs375227301
313 R>Q skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA343533472
rs1351583549
314 K>E No ClinGen
TOPMed
rs1352347519
CA343533478
314 K>R No ClinGen
gnomAD
rs774192387
CA1263384
316 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA1263383
rs768441740
316 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA33605642
rs768441740
316 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs761407856
CA1263385
317 A>T No ClinGen
ExAC
gnomAD
CA1263386
rs771543522
318 A>G No ClinGen
ExAC
gnomAD
rs771543522
CA1263387
318 A>V No ClinGen
ExAC
gnomAD
CA343533548
rs1281018405
319 E>G No ClinGen
gnomAD
rs771749153
CA33605664
319 E>K No ClinGen
Ensembl
CA343533581
rs1251721176
321 A>G No ClinGen
TOPMed
gnomAD
CA1263388
rs138192388
321 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1458914830
CA343533623
324 P>L No ClinGen
gnomAD
CA343533630
rs766160005
325 Q>* No ClinGen
ExAC
gnomAD
CA1263389
rs766160005
325 Q>E No ClinGen
ExAC
gnomAD
CA1263392
rs569583893
327 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1263391
rs759376165
327 P>S No ClinGen
ExAC
gnomAD
CA1263395
rs777726293
331 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1401557973
CA343533726
331 R>W No ClinGen
TOPMed
gnomAD
TCGA novel 335 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1263396
rs752034302
335 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA33605743
rs747611941
336 H>D No ClinGen
Ensembl
CA1263397
rs200697658
336 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1042167507
CA33605752
COSM900183
336 H>R Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA1263398
rs552069010
337 G>V No ClinGen
1000Genomes
ExAC
gnomAD
rs770353126
CA1263400
338 H>Q No ClinGen
ExAC
rs1359928383
CA343533834
338 H>R No ClinGen
gnomAD
TCGA novel 340 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343533898
rs1485512562
341 C>S No ClinGen
TOPMed
gnomAD
CA1263402
rs747819408
342 H>R No ClinGen
ExAC
gnomAD
CA1263401
rs61758794
342 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772630091
CA1263404
346 Y>H No ClinGen
ExAC
gnomAD
CA343533997
rs1232223920
346 Y>S No ClinGen
TOPMed
rs1340915790
CA343534297
350 H>Q No ClinGen
gnomAD
rs1167236357
CA343534308
351 K>E No ClinGen
TOPMed
CA343534312
rs1572450925
351 K>R No ClinGen
Ensembl
CA343534337
rs1277723604
352 M>I No ClinGen
gnomAD
rs769510660
CA1263431
352 M>T No ClinGen
ExAC
gnomAD
TCGA novel 355 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1263432
rs775293591
356 E>Q No ClinGen
ExAC
gnomAD
rs763184002
CA1263433
357 F>L No ClinGen
ExAC
gnomAD
CA343534475
rs544612091
357 F>L No ClinGen
TOPMed
rs1256339288
CA343534585
361 T>A No ClinGen
TOPMed
gnomAD
CA343534604
rs1443368433
361 T>M No ClinGen
gnomAD
rs1254895381
CA343534679
364 N>S No ClinGen
TOPMed
CA1263436
rs761790935
365 A>V No ClinGen
ExAC
gnomAD
TCGA novel 366 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343534795
rs767721965
369 H>L No ClinGen
ExAC
gnomAD
rs767721965
CA1263437
369 H>P No ClinGen
ExAC
gnomAD
CA343534791
rs767721965
369 H>R No ClinGen
ExAC
gnomAD
CA33606404
rs971827959
369 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1159764211
CA343534822
370 L>P No ClinGen
gnomAD
TCGA novel 372 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756722160
CA343534904
COSM354091
374 S>R lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1263441
rs370106815
375 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1263440
rs370106815
375 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1415988718
CA343534928
376 M>R No ClinGen
gnomAD
TCGA novel 378 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746733114
CA1263444
379 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs777287192
CA1263443
379 H>R No ClinGen
ExAC
gnomAD
rs780683289
CA1263446
380 A>T No ClinGen
ExAC
gnomAD
CA1263447
rs149978883
380 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 381 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1263450
rs747971729
383 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs768557058
CA1263451
383 R>Q No ClinGen
ExAC
gnomAD
rs1193686294
CA343535115
387 E>G No ClinGen
gnomAD
CA33606513
rs989252100
388 S>N No ClinGen
TOPMed
rs1389609704
CA343535158
389 S>F No ClinGen
TOPMed
rs774381829
CA33606518
390 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA343535164
rs1457591220
390 T>N No ClinGen
gnomAD
CA1263452
rs774381829
390 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA1263453
rs570373045
391 L>I No ClinGen
1000Genomes
ExAC
gnomAD
COSM1601293
rs1452681128
CA343535219
393 S>G liver [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1452681128
CA343535204
393 S>R No ClinGen
TOPMed
gnomAD
rs1460690428
CA343535241
395 I>L No ClinGen
TOPMed
rs1378238328
CA343535293
397 I>T No ClinGen
gnomAD
CA33606537
rs941164141
397 I>V No ClinGen
TOPMed
gnomAD
rs768273199
CA1263472
398 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA1263475
rs368999235
401 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1263474
rs748272969
401 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA1263473
rs778802743
401 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 403 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760832666
CA1263477
407 E>K No ClinGen
ExAC
gnomAD
rs1280539376
CA343536837
409 T>I No ClinGen
gnomAD
TCGA novel 409 T>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs948551998
CA33608617
410 S>L No ClinGen
TOPMed
gnomAD
rs1390097199
CA343536879
412 P>L No ClinGen
TOPMed
TCGA novel 413 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 413 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 416 R>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1420914140
CA343537185
417 N>K No ClinGen
gnomAD
rs778128892
CA1263494
417 N>S No ClinGen
ExAC
gnomAD
rs747247523
CA1263495
418 R>G No ClinGen
ExAC
gnomAD
rs1358167326
CA343537213
419 L>S No ClinGen
gnomAD
CA33609950
rs1034359855
421 H>R No ClinGen
gnomAD
rs1381769066
CA343537267
422 S>T No ClinGen
gnomAD
CA33609958
rs868076933
422 S>Y No ClinGen
Ensembl
rs571686108
CA1263497
423 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA1263499
rs770309544
COSM1744234
424 G>S biliary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1263500
rs775899673
425 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA1263502
rs764496879
427 T>S No ClinGen
ExAC
gnomAD
rs1015751889
CA33609977
428 R>G No ClinGen
Ensembl
CA343537331
rs1211055707
428 R>K No ClinGen
TOPMed
gnomAD
rs1257598047
CA343537335
428 R>S No ClinGen
gnomAD
CA343537350
rs1479531913
430 A>P No ClinGen
gnomAD
rs765759349
CA1263505
431 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753369086
CA1263506
431 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1572456674
CA343537378
432 N>S No ClinGen
Ensembl
TCGA novel 433 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1263507
rs754487575
433 G>V No ClinGen
ExAC
gnomAD
rs373862016
CA1263508
434 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA33610014
rs1044517209
434 Y>D No ClinGen
TOPMed
rs140033977
CA1263509
435 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA343537402
rs1328980596
COSM900186
435 R>Q Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA1263511
rs764684407
438 M>V No ClinGen
ExAC
gnomAD
rs1331278356
CA343537460
441 S>G No ClinGen
gnomAD
rs747194398
CA1263512
442 S>N No ClinGen
ExAC
gnomAD
rs1026358352
CA33610056
442 S>R No ClinGen
TOPMed
CA1263513
rs747194398
442 S>T No ClinGen
ExAC
gnomAD
TCGA novel 444 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1263529
rs751376768
444 A>V No ClinGen
ExAC
gnomAD
rs757039833
CA1263530
446 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 446 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1263531
rs368548808
447 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA33611062
rs1034956066
450 A>G No ClinGen
TOPMed
gnomAD
rs750664852
CA1263532
450 A>T No ClinGen
ExAC
gnomAD
rs1264427265
CA343537762
452 H>R No ClinGen
gnomAD
CA1263533
rs756157066
454 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA343537820
rs1558174987
456 G>E No ClinGen
Ensembl
CA1263535
rs749750981
459 T>A No ClinGen
ExAC
gnomAD
rs1363870732
CA343537905
464 L>V No ClinGen
gnomAD
TCGA novel 467 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1191479003
CA343537968
469 L>S No ClinGen
TOPMed
CA1263538
rs779439672
472 E>K No ClinGen
ExAC
gnomAD
rs1299026846
CA343538022
473 G>S No ClinGen
gnomAD
rs1445469240
CA343538056
475 K>N No ClinGen
gnomAD
rs1236826885
CA343538151
482 T>A No ClinGen
gnomAD
rs778029631
CA1263561
486 A>S No ClinGen
ExAC
gnomAD
rs1245456491
CA343538185
486 A>V No ClinGen
gnomAD
rs888632393
CA33613712
487 A>T No ClinGen
TOPMed
rs1477192943
CA343538203
489 C>F No ClinGen
gnomAD
CA1263563
rs769546705
491 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs762545723
CA1263565
496 Y>* No ClinGen
ExAC
gnomAD
rs775320151
CA1263564
496 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA33613735
rs964515749
497 A>S No ClinGen
TOPMed
rs1329252038
CA343538260
498 A>S No ClinGen
gnomAD
CA33613743
rs998263209
502 K>M No ClinGen
TOPMed
CA33613748
rs965728955
504 T>A No ClinGen
Ensembl
CA1263566
COSM331140
rs560266005
505 E>K lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1328832042
CA343538325
508 H>Y No ClinGen
gnomAD
CA33616658
rs79385761
509 F>L No ClinGen
Ensembl
rs967937341
CA33616661
512 T>A No ClinGen
TOPMed
gnomAD
CA1263588
rs773270931
514 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA343538589
rs760451241
516 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs776769188
CA1263591
517 V>E No ClinGen
ExAC
gnomAD
CA1263590
rs766175478
517 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759787021
CA33616681
520 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA1263593
rs765310482
520 I>T No ClinGen
ExAC
gnomAD
rs759787021
CA1263592
520 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 522 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343538671
rs1400938790
523 M>L No ClinGen
TOPMed
gnomAD
CA343538669
rs1400938790
523 M>V No ClinGen
TOPMed
gnomAD
CA343538691
rs1247865603
524 V>A No ClinGen
TOPMed
gnomAD
rs1298408946
CA343538685
524 V>M No ClinGen
gnomAD
TCGA novel 527 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1448029826
CA343538760
529 D>G No ClinGen
gnomAD
CA1263594
rs752695834
530 P>R No ClinGen
ExAC
gnomAD
CA343538784
rs1250458150
532 H>Y No ClinGen
TOPMed
rs1244670148
CA343538793
533 P>S No ClinGen
gnomAD
CA343538798
rs1385434716
534 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA1263595
rs758545019
535 L>F No ClinGen
ExAC
gnomAD
CA343538808
rs1361673118
535 L>P No ClinGen
gnomAD
rs758545019
CA343538806
535 L>V No ClinGen
ExAC
gnomAD
CA343538830
rs1488507476
539 T>P No ClinGen
gnomAD
TCGA novel 542 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA33616700
rs112005689
543 K>E No ClinGen
Ensembl
TCGA novel 546 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM284461
CA1263618
rs762927733
546 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1445158837
CA343539459
549 F>C No ClinGen
gnomAD
TCGA novel 550 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343539470
rs1330788255
551 A>T No ClinGen
gnomAD
rs1384011613
CA343539476
552 G>S No ClinGen
TOPMed
CA343539493
rs1282503375
554 R>T No ClinGen
gnomAD
rs1572472162
CA343539506
555 M>I No ClinGen
Ensembl
TCGA novel 557 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA343539551
rs1364349066
560 W>R No ClinGen
TOPMed
rs945621746
CA33619774
563 H>R No ClinGen
Ensembl
CA343539589
rs1572472179
563 H>Y No ClinGen
Ensembl
rs1311444928
CA343539612
565 S>N No ClinGen
gnomAD
rs1233670493
CA343539621
566 A>T No ClinGen
gnomAD
rs867254115
CA33619779
566 A>V No ClinGen
Ensembl
rs377169706
CA1263636
575 V>I No ClinGen
ESP
ExAC
gnomAD
CA33782660
rs377169706
575 V>L No ClinGen
ESP
ExAC
gnomAD
rs1203819239
CA343838382
577 T>A No ClinGen
TOPMed
rs369314414
CA1263637
578 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1263639
rs762026927
579 L>V No ClinGen
ExAC
gnomAD
CA343838431
rs1272589222
584 E>Q No ClinGen
TOPMed

1 associated diseases with Q86X27

Without disease ID

2 regional properties for Q86X27

Type Name Position InterPro Accession
domain Pleckstrin homology domain 457 - 571 IPR001849
domain Ras guanine-nucleotide exchange factors catalytic domain 45 - 288 IPR001895

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cell membrane
  • Associates with membranes through the PH domain
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 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.

3 GO annotations of biological process

Name Definition
positive regulation of GTPase activity Any process that activates or increases the activity of a GTPase.
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 Ral protein signal transduction Any process that modulates the frequency, rate or extent of Ral protein signal transduction.

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
Q13905 RAPGEF1 Rap guanine nucleotide exchange factor 1 Homo sapiens (Human) PR
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
Q5JS13 RALGPS1 Ras-specific guanine nucleotide-releasing factor RalGPS1 Homo sapiens (Human) PR
Q62245 Sos1 Son of sevenless homolog 1 Mus musculus (Mouse) SS
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
Q02384 Sos2 Son of sevenless homolog 2 Mus musculus (Mouse) SS
A2AR50 Ralgps1 Ras-specific guanine nucleotide-releasing factor RalGPS1 Mus musculus (Mouse) PR
Q9ERD6 Ralgps2 Ras-specific guanine nucleotide-releasing factor RalGPS2 Mus musculus (Mouse) PR
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
MDLMNGQASS VNIAATASEK SSSSESLSDK GSELKKSFDA VVFDVLKVTP EEYAGQITLM
70 80 90 100 110 120
DVPVFKAIQP DELSSCGWNK KEKYSSAPNA VAFTRRFNHV SFWVVREILH AQTLKIRAEV
130 140 150 160 170 180
LSHYIKTAKK LYELNNLHAL MAVVSGLQSA PIFRLTKTWA LLSRKDKTTF EKLEYVMSKE
190 200 210 220 230 240
DNYKRLRDYI SSLKMTPCIP YLGIYLSDLT YIDSAYPSTG SILENEQRSN LMNNILRIIS
250 260 270 280 290 300
DLQQSCEYDI PMLPHVQKYL NSVQYIEELQ KFVEDDNYKL SLKIEPGTST PRSAASREDL
310 320 330 340 350 360
VGPEVGASPQ SGRKSVAAEG ALLPQTPPSP RNLIPHGHRK CHSLGYNFIH KMNTAEFKSA
370 380 390 400 410 420
TFPNAGPRHL LDDSVMEPHA PSRGQAESST LSSGISIGSS DGSELSEETS WPAFERNRLY
430 440 450 460 470 480
HSLGPVTRVA RNGYRSHMKA SSSAESEDLA VHLYPGAVTI QGVLRRKTLL KEGKKPTVAS
490 500 510 520 530 540
WTKYWAALCG TQLFYYAAKS LKATERKHFK STSNKNVSVI GWMVMMADDP EHPDLFLLTD
550 560 570 580
SEKGNSYKFQ AGNRMNAMLW FKHLSAACQS NKQQVPTNLM TFE