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 Q6P1M9

Entry ID Method Resolution Chain Position Source
AF-Q6P1M9-F1 Predicted AlphaFoldDB

309 variants for Q6P1M9

Variant ID(s) Position Change Description Diseaes Association Provenance
CA10475780
rs775783944
2 V>A No ClinGen
ExAC
gnomAD
rs1215236081
CA414059857
2 V>F No ClinGen
gnomAD
TCGA novel 3 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10475781
rs376521671
4 S>P No ClinGen
ESP
ExAC
gnomAD
CA333914993
rs1056732662
5 G>R No ClinGen
TOPMed
CA414059918
rs1180485038
6 T>A No ClinGen
gnomAD
CA414059932
rs1454640404
6 T>I No ClinGen
TOPMed
CA10475783
rs752178410
7 E>Q No ClinGen
ExAC
gnomAD
rs147081834
CA10475784
9 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1158005053
CA414059976
9 R>S No ClinGen
TOPMed
TCGA novel 14 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10475785
rs767819081
17 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA10475786
rs772283056
20 D>E No ClinGen
1000Genomes
ExAC
gnomAD
CA414060144
rs1199539554
22 I>V No ClinGen
TOPMed
rs1480031482
CA414060189
24 G>S No ClinGen
TOPMed
rs1602493664
CA414060274
30 V>M No ClinGen
Ensembl
CA333914995
rs1017659655
36 A>S No ClinGen
Ensembl
CA333914997
rs777165273
37 E>D No ClinGen
TOPMed
CA10475788
rs778633013
37 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA333914996
rs778633013
37 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1486111547
CA414060499
42 A>V No ClinGen
TOPMed
CA10475789
rs747742515
45 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA414060633
rs1317140536
50 T>A No ClinGen
gnomAD
CA10475790
rs757964410
50 T>I No ClinGen
ExAC
TCGA novel 52 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1307008813
CA414060738
55 G>C No ClinGen
gnomAD
CA414060746
rs1318370282
55 G>V No ClinGen
gnomAD
rs746990723
CA10475792
57 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA10475793
rs770882008
58 A>V No ClinGen
ExAC
gnomAD
rs976516077
CA333914999
64 T>A No ClinGen
gnomAD
rs1314190529
CA414060909
64 T>R No ClinGen
TOPMed
CA10475797
rs775908725
67 Y>C No ClinGen
ExAC
gnomAD
rs763262040
CA10475798
71 M>L No ClinGen
ExAC
gnomAD
rs1413251452
CA414061055
72 A>P No ClinGen
gnomAD
rs923526734
CA333915000
74 T>R No ClinGen
TOPMed
CA10475799
rs764309369
75 R>S No ClinGen
ExAC
gnomAD
rs761752157
CA10475801
81 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA333915001
rs951073931
82 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 83 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414061247
rs1287902867
83 T>R No ClinGen
TOPMed
rs138502487
CA10475802
84 T>I No ClinGen
ESP
ExAC
gnomAD
CA414061283
rs1398036389
85 K>N No ClinGen
gnomAD
rs1429627218
CA414061304
87 R>G No ClinGen
gnomAD
rs1298666212
CA414061345
89 M>V No ClinGen
gnomAD
CA333915002
rs942177128
91 E>D No ClinGen
gnomAD
CA10475805
rs766719928
94 T>A No ClinGen
ExAC
gnomAD
CA10475806
rs752417086
95 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA414061476
rs1427105317
96 P>A No ClinGen
TOPMed
CA10475807
rs758017459
96 P>L No ClinGen
ExAC
gnomAD
CA414061477
rs1427105317
96 P>S No ClinGen
TOPMed
rs1428870286
CA414061499
97 L>P No ClinGen
TOPMed
CA10475808
rs777317204
98 A>V No ClinGen
ExAC
gnomAD
rs12013441
CA10475809
100 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10475810
rs112989637
100 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA414061564
rs112989637
100 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1569479954
CA414061572
101 S>G No ClinGen
Ensembl
rs781198467
CA10475811
101 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA10475812
rs374726828
102 I>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414061617
rs1321585422
105 Q>E No ClinGen
TOPMed
CA414061616
rs1321585422
105 Q>K No ClinGen
TOPMed
TCGA novel 107 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA333915003
rs1009936608
107 K>E No ClinGen
TOPMed
TCGA novel 108 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749568583
CA10475815
108 S>P No ClinGen
ExAC
gnomAD
CA10475816
rs769019967
109 K>R No ClinGen
ExAC
gnomAD
CA10475818
rs761960075
CA10475819
111 M>I No ClinGen
ExAC
gnomAD
CA10475817
rs760692111
111 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1293831831
CA414061751
112 P>A No ClinGen
TOPMed
CA414061795
rs773828294
114 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs1213364116
CA414061796
114 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs773828294
CA10475820
114 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs112318694
CA333915005
117 S>G No ClinGen
Ensembl
rs41307379
CA333915006
119 V>L No ClinGen
Ensembl
rs766774856
CA10475822
121 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1299403011
CA414061944
123 E>G No ClinGen
TOPMed
CA414061969
rs1345766890
125 K>E No ClinGen
gnomAD
CA10475823
rs764283175
125 K>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1275903870
CA414061983
126 V>I No ClinGen
gnomAD
TCGA novel 131 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 132 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759848417
CA10475824
134 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA10475825
rs763738026
135 R>M No ClinGen
ExAC
TOPMed
gnomAD
rs751112777
CA10475826
135 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1000666618
CA333915008
137 Y>F No ClinGen
Ensembl
CA10475827
CA414062231
rs776569480
142 D>E No ClinGen
1000Genomes
ExAC
gnomAD
rs780559667
CA10475828
147 G>V No ClinGen
ExAC
gnomAD
rs750414266
CA10475829
150 P>S No ClinGen
ExAC
gnomAD
CA333915009
rs756099007
151 D>E No ClinGen
ExAC
gnomAD
rs1194546099
CA414062387
152 R>G No ClinGen
gnomAD
CA414062446
rs1186847886
155 E>* No ClinGen
gnomAD
rs35450554
CA10475832
156 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA333915010
rs997524032
157 S>I No ClinGen
gnomAD
CA414062478
rs997524032
157 S>N No ClinGen
gnomAD
CA333915011
rs369047406
158 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1365727293
CA414062500
158 I>T No ClinGen
TOPMed
gnomAD
rs369047406
CA10475833
158 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA333915012
rs923659718
162 S>F No ClinGen
TOPMed
gnomAD
TCGA novel 162 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201641747
CA10475835
163 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10475836
rs772263868
165 E>G No ClinGen
ExAC
gnomAD
TCGA novel 166 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10475837
rs773138492
167 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 169 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1272227101
CA414062766
169 N>T No ClinGen
gnomAD
CA10475838
rs375887903
170 I>L No ClinGen
ESP
ExAC
gnomAD
CA414062781
rs1315280518
170 I>T No ClinGen
TOPMed
CA10475839
rs375887903
170 I>V No ClinGen
ESP
ExAC
gnomAD
rs763159758
CA333915013
173 W>R No ClinGen
Ensembl
TCGA novel 174 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10475840
rs777053533
176 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs765569290
CA10475842
182 V>A No ClinGen
ExAC
rs1283860891
CA414063039
185 W>G No ClinGen
gnomAD
TCGA novel 187 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs935033680
CA333915015
190 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA414063149
rs1447730376
190 E>K No ClinGen
gnomAD
CA10475843
rs751288317
191 E>D No ClinGen
ExAC
gnomAD
CA10475845
rs767103137
193 S>F No ClinGen
ExAC
CA10475846
rs749922493
194 L>F No ClinGen
ExAC
gnomAD
CA10475847
rs755643991
194 L>P No ClinGen
ExAC
rs370774795
CA10475849
197 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1385758542
CA414063280
197 Y>H No ClinGen
gnomAD
rs1426285800
CA414063427
205 E>G No ClinGen
TOPMed
CA10475851
rs758798400
206 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1452335292
CA414063508
209 P>H No ClinGen
gnomAD
rs767302829
CA10475852
209 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs758529861
CA10475853
211 H>Q No ClinGen
ExAC
gnomAD
rs1400172327
CA414063564
212 K>R No ClinGen
TOPMed
gnomAD
CA10475854
rs778007632
213 P>A No ClinGen
ExAC
gnomAD
rs1238059817
CA414063588
214 T>A No ClinGen
TOPMed
gnomAD
CA333915016
rs963511931
217 I>V No ClinGen
Ensembl
CA10475855
rs747125732
218 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 221 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414063707
rs1365763904
221 V>G No ClinGen
TOPMed
rs1328810386
CA414063730
222 I>T No ClinGen
gnomAD
CA414063738
rs1182601370
223 A>T No ClinGen
TOPMed
rs770936094
CA10475856
225 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA333915017
rs980295564
226 R>G No ClinGen
Ensembl
TCGA novel 227 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1248994212
CA414063822
228 R>G No ClinGen
TOPMed
CA10475858
rs746367535
229 Y>C No ClinGen
ExAC
CA414063844
rs1276724162
229 Y>H No ClinGen
gnomAD
rs373013040
CA10475859
230 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 231 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755694549
CA10475860
237 G>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1490662118
CA414063975
237 G>R No ClinGen
TOPMed
TCGA novel 238 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10475861
rs763326554
238 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA10475863
rs772853746
239 E>G No ClinGen
ExAC
gnomAD
CA10475862
rs767105830
239 E>K No ClinGen
ExAC
CA10475864
rs139851001
243 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs948341958
CA333915018
244 P>L No ClinGen
TOPMed
CA333915019
rs866578212
246 G>E No ClinGen
Ensembl
rs1362774825
CA414064120
246 G>R No ClinGen
gnomAD
rs765976307
CA10475865
248 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA333915020
rs377411016
249 T>I No ClinGen
ESP
TOPMed
gnomAD
rs753895997
CA333915021
250 L>M No ClinGen
ExAC
gnomAD
CA10475867
rs754938559
251 V>F No ClinGen
ExAC
gnomAD
CA333915022
rs375842205
252 E>K No ClinGen
Ensembl
CA10475868
rs765132384
253 T>I No ClinGen
ExAC
gnomAD
TCGA novel 258 P>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777867447
CA10475871
262 R>* No ClinGen
ExAC
gnomAD
rs1056127986
CA333915024
262 R>Q No ClinGen
Ensembl
rs1444433505
CA414064467
266 K>M No ClinGen
gnomAD
CA10475873
rs143305512
267 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1323042694
CA414064531
269 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs139067925
CA10475876
277 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10475879
rs749617854
283 K>N No ClinGen
ExAC
gnomAD
rs749534706 283 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs769008473
CA10475880
285 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA414064836
rs1159404940
285 I>V No ClinGen
TOPMed
CA414064962
rs1266371628
291 Y>C No ClinGen
gnomAD
CA10475881
rs772797845
291 Y>H No ClinGen
ExAC
gnomAD
CA414065004
rs1176689378
294 N>D No ClinGen
gnomAD
CA10475884
rs376270648
295 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10475883
rs376270648
295 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs887148982
CA333915026
295 P>S No ClinGen
TOPMed
CA414065093
rs1167891788
299 H>D No ClinGen
gnomAD
rs765121989
CA10475886
COSM305503
299 H>R central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1393244084
CA414065152
302 S>P No ClinGen
TOPMed
gnomAD
TCGA novel 302 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759494842
CA10475887
303 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA414065165
rs759494842
303 R>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 304 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs377359903
CA10475888
306 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1349534818
CA414065294
309 P>L No ClinGen
TOPMed
rs1201063133
CA414065286
309 P>S No ClinGen
TOPMed
gnomAD
rs113918916
CA333915027
311 E>G No ClinGen
Ensembl
CA414065425
rs1285429216
316 V>A No ClinGen
gnomAD
TCGA novel 318 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 319 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1224825577
CA414065535
321 L>F No ClinGen
TOPMed
rs1602495118
CA414065640
328 H>N No ClinGen
Ensembl
TCGA novel 328 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 329 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 329 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414065716
rs1347211430
331 A>G No ClinGen
TOPMed
gnomAD
rs370182133
CA10475890
333 M>T No ClinGen
ESP
ExAC
TOPMed
CA333915028
rs868738831
336 G>D No ClinGen
Ensembl
rs1019659336
CA333915029
337 I>V No ClinGen
TOPMed
TCGA novel 342 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1339951743
CA414065961
345 Q>* No ClinGen
gnomAD
CA414065972
rs1381821045
345 Q>P No ClinGen
TOPMed
TCGA novel 347 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10475893
rs750531280
347 I>V No ClinGen
ExAC
gnomAD
CA10475894
rs756152594
349 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA333915030
rs866416226
349 H>Y No ClinGen
Ensembl
rs1178601130
CA414066068
350 D>G No ClinGen
TOPMed
rs1429198188
CA414066136
354 T>I No ClinGen
TOPMed
rs1199746561
CA414066157
355 V>A No ClinGen
gnomAD
rs1476582628
CA414066175
356 M>T No ClinGen
TOPMed
CA333915031
rs1000634112
356 M>V No ClinGen
TOPMed
gnomAD
TCGA novel 359 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1038880909
CA333915032
360 L>F No ClinGen
Ensembl
CA10475896
rs749789460
361 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs768968357
CA10475897
362 N>S No ClinGen
ExAC
gnomAD
rs767404642
CA10475898
364 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA10475899
rs746711877
365 N>S No ClinGen
ExAC
gnomAD
rs1245831353
CA414067307
368 E>Q No ClinGen
TOPMed
CA414067339
rs1382487281
369 H>Q No ClinGen
TOPMed
gnomAD
CA414067381
rs1569480308
372 A>D No ClinGen
Ensembl
CA414067401
rs1162212868
374 S>G No ClinGen
gnomAD
rs770732927
CA10475900
375 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs200145435
CA10475902
378 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1383003699
CA414067521
379 S>N No ClinGen
gnomAD
TCGA novel 379 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752535299
CA333915033
381 E>D No ClinGen
Ensembl
rs762914687
CA10475905
384 E>K Variant assessed as Somatic; 0.0002501 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763841626
CA10475906
386 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs761553267
CA10475908
387 K>Q No ClinGen
ExAC
gnomAD
rs1363267282
CA414067697
390 E>* No ClinGen
TOPMed
rs149355875
CA10475911
390 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1363267282
CA414067695
390 E>Q No ClinGen
TOPMed
CA10475912
rs780177987
391 S>P No ClinGen
ExAC
gnomAD
CA414067836
rs1262944287
397 C>S No ClinGen
TOPMed
gnomAD
CA414067847
rs1602495480
397 C>Y No ClinGen
Ensembl
CA10475915
rs779517538
398 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs991863102
CA333915034
403 C>R No ClinGen
TOPMed
rs1445344175
CA414068076
408 P>T No ClinGen
gnomAD
CA10475917
rs142617709
409 V>G No ClinGen
ESP
ExAC
gnomAD
CA414068132
rs1387903043
411 L>V No ClinGen
TOPMed
rs781008940
CA10475919
413 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs781008940
CA10475918
413 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA414068306
rs1385448235
422 I>V No ClinGen
gnomAD
CA414068322
rs1436974827
423 K>T No ClinGen
gnomAD
CA333915035
rs1034553174
425 E>G No ClinGen
Ensembl
rs960246032
CA333915036
426 D>H No ClinGen
Ensembl
CA10475921
rs775040513
427 H>Y No ClinGen
ExAC
gnomAD
rs1241941436
CA414068498
434 I>T No ClinGen
TOPMed
rs762318478
CA10475922
434 I>V No ClinGen
ExAC
gnomAD
CA414068506
rs1314602059
436 D>N No ClinGen
gnomAD
TCGA novel 438 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1207416009
CA414068662
443 K>N No ClinGen
TOPMed
rs992281117
CA333915037
443 K>T No ClinGen
Ensembl
rs761610220
CA10475925
445 S>N No ClinGen
ExAC
gnomAD
rs201473675
CA10475927
450 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs760920872
CA10475928
452 V>A No ClinGen
ExAC
gnomAD
CA414068860
rs186882890
455 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10475929
rs186882890
455 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1405965221
CA414068885
457 S>* No ClinGen
TOPMed
gnomAD
rs1405965221
CA414068889
COSM3843053
457 S>L Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 457 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765848046
CA10475932
458 C>Y No ClinGen
ExAC
gnomAD
COSM456369
CA10475933
rs753200471
463 H>Q Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA333915038
rs140890801
463 H>R No ClinGen
ESP
TOPMed
CA414068964
rs1458646609
464 A>G No ClinGen
gnomAD
rs947710517
CA333915039
464 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 467 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758896663
CA10475934
467 R>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 470 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753433648
CA333915041
473 K>R No ClinGen
TOPMed
rs1367794687
CA414069084
477 S>* No ClinGen
TOPMed
rs1164642994
CA414069102
479 V>I No ClinGen
TOPMed
TCGA novel 480 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756875554
CA333915042
483 N>K No ClinGen
TOPMed
rs755810411
CA10475937
486 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs778307769
CA333915044
489 A>G No ClinGen
Ensembl
TCGA novel 489 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414069229
rs1390291216
490 N>Y No ClinGen
gnomAD
CA10475938
rs779531158
495 I>V No ClinGen
ExAC
gnomAD
CA414069294
rs1290614480
496 E>A No ClinGen
gnomAD
TCGA novel 499 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 500 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414069416
rs1233357976
505 F>I No ClinGen
TOPMed
rs748834056
CA10475939
508 K>Q No ClinGen
ExAC
gnomAD
rs774329171
CA10475941
509 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs774329171
CA414069465
509 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA414069511
rs1293626733
513 T>N No ClinGen
TOPMed
CA10475944
rs773039042
518 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA414069567
rs773039042
518 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1358925759
CA414069573
519 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs367941873
CA10475945
519 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA333915045
rs887273515
523 I>T No ClinGen
TOPMed
CA333915046
rs539090958
525 I>V No ClinGen
gnomAD
CA10475946
rs200184974
527 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10475947
rs776653260
527 Q>R No ClinGen
ExAC
gnomAD
CA10475948
rs759705815
529 A>T No ClinGen
ExAC
gnomAD
CA10475949
rs769324479
531 Q>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 534 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10475951
rs775244048
540 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1351966633
CA414069879
546 E>A No ClinGen
gnomAD
CA414069877
rs1298188206
COSM1112108
546 E>K Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1402782902
CA414069899
548 R>K No ClinGen
gnomAD
CA333915048
rs899863542
549 D>E No ClinGen
TOPMed
TCGA novel 549 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA333915049
rs933186129
552 I>M No ClinGen
TOPMed
COSM293359
rs1366416541
CA414069954
553 R>* large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA10475954
rs757494690
555 I>V No ClinGen
ExAC
TOPMed
TCGA novel 557 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414070036
rs1408018339
559 L>C No ClinGen
TOPMed

No associated diseases with Q6P1M9

No regional properties for Q6P1M9

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q6P1M9

Functions

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

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

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9UH62 ARMCX3 Armadillo repeat-containing X-linked protein 3 Homo sapiens (Human) PR
Q5U4C1 Gprasp1 G-protein coupled receptor-associated sorting protein 1 Mus musculus (Mouse) PR
Q8BUY8 Gprasp2 G-protein coupled receptor-associated sorting protein 2 Mus musculus (Mouse) PR
Q3UZB0 Armcx5 Armadillo repeat-containing X-linked protein 5 Mus musculus (Mouse) PR
10 20 30 40 50 60
MVDSGTEARA RGKAEAGLQD GISGPATARV NGKTQAEAVA EAELKTESVT QAKAGDGAMT
70 80 90 100 110 120
RTHTVTYREA MAVTREVIKV EDTTKTRVMV ETKTKPLAER SIVPQTKSKA MPMSRVSTVT
130 140 150 160 170 180
KSEVKVVAVI EANIRSYAKS HDKANTGSRP DRREETSIGM KSSDEDEENI CSWFWTGEEP
190 200 210 220 230 240
SVGSWFWPEE ETSLQVYKPL PKIQEKPKPT HKPTLTIKQK VIAWSRARYI VLVPVEGGEQ
250 260 270 280 290 300
SLPPEGNWTL VETLIETPLG IRPLTKIPPY HGPYYQTLAE IKKQIRQREK YGPNPKACHC
310 320 330 340 350 360
KSRGFSLEPK EFDKLVALLK LTKDPFIHEI ATMIMGISPA YPFTQDIIHD VGITVMIENL
370 380 390 400 410 420
VNNPNVKEHP GALSMVDDSS ESSEEPKSGE SYIHQVCKGI ISCPLNSPVQ LAGLKLLGHL
430 440 450 460 470 480
SIKFEDHYVI TSYIPDFLTL LNKGSVKTKF YVLKVFSCLS KNHANTRELI SAKVLSSLVA
490 500 510 520 530 540
PFNKNESKAN ILNIIEIFEN INFQFKTKAK LFTKEKFTKS ELISIFQEAK QFGQKLQDLA
550
EHSDPEVRDK VIRLILKL