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 Q96BV0

Entry ID Method Resolution Chain Position Source
AF-Q96BV0-F1 Predicted AlphaFoldDB

556 variants for Q96BV0

Variant ID(s) Position Change Description Diseaes Association Provenance
rs779597474
CA4562854
2 E>D No ClinGen
ExAC
gnomAD
CA169022681
rs768156484
3 S>N No ClinGen
Ensembl
CA4562855
rs748639428
4 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA369827052
rs1433096328
4 G>V No ClinGen
gnomAD
CA369827059
rs1288540518
5 L>Q No ClinGen
TOPMed
CA369827111
rs1292520600
9 G>C No ClinGen
TOPMed
gnomAD
TCGA novel 9 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369827109
rs1292520600
9 G>R No ClinGen
TOPMed
gnomAD
CA369827106
rs1292520600
9 G>S No ClinGen
TOPMed
gnomAD
rs1361713593
CA369827115
9 G>V No ClinGen
TOPMed
gnomAD
CA4562869
rs766643138
11 G>E No ClinGen
ExAC
gnomAD
CA369828524
rs1408653674
13 G>W No ClinGen
gnomAD
CA369828551
rs1283608615
15 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4562871
rs565550571
16 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs755437199
CA4562872
18 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA4562874
rs753318204
19 K>E No ClinGen
ExAC
gnomAD
CA4562875
rs758941133
20 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA369828732
rs1462324209
21 E>Q No ClinGen
gnomAD
rs746544872
CA4562877
23 P>L No ClinGen
ExAC
gnomAD
CA169027166
rs750020032
24 E>Q No ClinGen
gnomAD
CA4562879
rs780861281
25 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs200057340
CA169027171
27 L>V No ClinGen
gnomAD
rs745495468
CA369828936
28 Q>L No ClinGen
ExAC
gnomAD
CA4562880
rs745495468
28 Q>R No ClinGen
ExAC
gnomAD
CA169027193
rs922925801
29 T>M No ClinGen
gnomAD
rs551433326
CA4562883
30 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1402668412
CA369828996
31 A>E No ClinGen
gnomAD
rs768650613
CA4562884
31 A>T No ClinGen
ExAC
gnomAD
rs893373049
CA169027205
32 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 32 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1338423583
CA369829025
33 Q>* No ClinGen
gnomAD
CA369829061
rs1217940327
35 M>I No ClinGen
gnomAD
rs1360043369
CA369829049
35 M>V No ClinGen
TOPMed
gnomAD
rs774103870
CA369829064
36 L>F No ClinGen
ExAC
gnomAD
rs919672811
CA169027209
36 L>H No ClinGen
TOPMed
rs774103870
CA4562885
36 L>V No ClinGen
ExAC
gnomAD
CA369829078
rs1414476428
37 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA369829084
rs1346891147
38 E>Q No ClinGen
gnomAD
rs755995571
CA169027224
39 K>N No ClinGen
gnomAD
CA369829107
rs1217078067
39 K>R No ClinGen
gnomAD
rs940453
CA369829186
44 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1261652932
CA369829182
44 I>T No ClinGen
gnomAD
rs1044561897
CA169027250
45 F>C No ClinGen
TOPMed
gnomAD
TCGA novel 47 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369829224
rs1478853080
47 Q>R No ClinGen
TOPMed
rs1271445347
CA369829228
48 H>D No ClinGen
gnomAD
CA369829234
rs1585089107
48 H>P No ClinGen
Ensembl
CA4562889
rs759823235
COSM3781287
49 R>Q pancreas Variant assessed as Somatic; 4.835e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA369829244
rs1263733750
49 R>W No ClinGen
TOPMed
rs906034919
CA369829254
50 G>D No ClinGen
gnomAD
rs906034919
CA169027262
50 G>V No ClinGen
gnomAD
rs753116499
CA4562892
52 P>L No ClinGen
ExAC
gnomAD
rs1156857123
CA369829270
52 P>S No ClinGen
gnomAD
rs1303723254
CA369829277
53 P>S No ClinGen
TOPMed
gnomAD
rs764685153
CA4562894
54 R>C No ClinGen
ExAC
TOPMed
CA369829292
rs1255589255
54 R>L No ClinGen
TOPMed
rs751978374
CA4562895
56 T>I No ClinGen
ExAC
gnomAD
CA369829319
rs1373699118
57 M>L No ClinGen
TOPMed
gnomAD
rs1373699118
CA369829320
57 M>V No ClinGen
TOPMed
gnomAD
rs1283193510
CA369829353
59 R>Q No ClinGen
gnomAD
rs1241882894
CA369829348
59 R>W No ClinGen
TOPMed
gnomAD
CA4562896
rs536879076
61 R>* No ClinGen
1000Genomes
ExAC
gnomAD
rs536879076
CA169027297
61 R>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1036175864
CA369829371
61 R>P No ClinGen
TOPMed
gnomAD
CA169027301
rs1036175864
61 R>Q No ClinGen
TOPMed
gnomAD
CA169027302
rs961524242
62 A>P No ClinGen
Ensembl
rs755764895
CA4562900
64 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA369829403
rs1177025644
65 G>R No ClinGen
gnomAD
CA4562902
rs749127815
67 E>K No ClinGen
ExAC
gnomAD
CA369829471
rs1563260421
71 S>N No ClinGen
Ensembl
CA4562905
rs748015774
72 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA4562906
rs771197189
73 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA369829501
CA369829499
rs1354911842
73 R>S No ClinGen
TOPMed
gnomAD
CA4562907
rs776850369
75 A>T No ClinGen
ExAC
TOPMed
rs759623914
CA4562909
76 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA369829522
rs759623914
76 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA369829531
rs1182291158
77 P>L No ClinGen
TOPMed
rs181687931
CA4562910
77 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4562911
rs775808352
78 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA369829541
rs1286459914
79 E>A No ClinGen
gnomAD
CA4562913
rs764342956
81 D>A No ClinGen
ExAC
gnomAD
CA369829597
rs1274092655
82 A>T No ClinGen
gnomAD
CA4562914
rs752164887
82 A>V No ClinGen
ExAC
gnomAD
rs749944741
CA4562917
83 G>R No ClinGen
ExAC
CA4562918
rs755570546
87 R>L No ClinGen
ExAC
gnomAD
CA169027388
rs904588770
87 R>W No ClinGen
TOPMed
CA369829692
rs1445303702
89 P>S No ClinGen
gnomAD
rs754854246
CA4562921
91 S>T No ClinGen
ExAC
gnomAD
rs778563301
CA4562922
93 S>A No ClinGen
ExAC
gnomAD
CA369829783
rs1328852214
94 G>A No ClinGen
gnomAD
TCGA novel 94 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369829776
rs1467033464
94 G>S No ClinGen
gnomAD
CA4562924
COSM1737375
rs199767660
95 P>L central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA369829826
rs773225965
CA369829827
97 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs745969597
CA4562926
99 S>L No ClinGen
ExAC
gnomAD
rs1271326878
CA369829862
100 L>P No ClinGen
gnomAD
CA4562928
rs775829700
101 S>F No ClinGen
ExAC
gnomAD
rs774582990
CA4562931
103 G>S No ClinGen
ExAC
gnomAD
rs1254116445
CA369829946
105 G>S No ClinGen
gnomAD
rs960032939
CA169027411
107 F>L No ClinGen
TOPMed
gnomAD
CA4562934
rs201877119
108 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA4562936
rs765855757
109 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA4562937
rs753586768
110 L>P No ClinGen
ExAC
gnomAD
rs1173999048
CA369830062
111 D>G No ClinGen
gnomAD
rs1192892081
CA369830118
113 G>E No ClinGen
Ensembl
CA4562939
rs778565576
113 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1180090223
CA369830144
114 K>R No ClinGen
TOPMed
rs1398701156
CA369830155
115 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1277902052
CA369830210
118 W>C No ClinGen
gnomAD
rs758218469
CA369830272
120 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs1324748564
CA369830260
120 S>A No ClinGen
gnomAD
CA4562941
rs758218469
120 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs914260281
CA169027437
121 S>A No ClinGen
Ensembl
rs572349947
CA4562943
123 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA169027451
rs962644146
123 K>R No ClinGen
TOPMed
rs770056390
CA4562944
124 I>L No ClinGen
ExAC
gnomAD
CA369830364
rs1236097829
125 H>P No ClinGen
gnomAD
rs1191444796
CA369830371
125 H>Q No ClinGen
gnomAD
rs1262151741
CA369830431
127 R>C No ClinGen
gnomAD
rs779991517
CA4562945
127 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3358106
CA4562948
rs774580244
131 G>R haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4562949
rs762193428
132 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs772392872
CA369830628
137 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs541704426
CA169027481
138 G>S No ClinGen
1000Genomes
TOPMed
gnomAD
rs761160648
CA4562952
CA369830688
139 K>N No ClinGen
ExAC
gnomAD
CA4562951
rs773759548
139 K>R No ClinGen
ExAC
gnomAD
CA4562953
rs765984131
140 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs753296869
CA4562954
141 G>S No ClinGen
ExAC
gnomAD
rs1214318285
CA369830728
141 G>V No ClinGen
gnomAD
TCGA novel 142 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369830766
rs1369858507
143 S>C No ClinGen
TOPMed
CA4562955
rs759029217
145 S>G No ClinGen
ExAC
gnomAD
rs759029217
CA4562956
145 S>R No ClinGen
ExAC
gnomAD
rs1414988339
CA369830815
145 S>T No ClinGen
TOPMed
gnomAD
rs752355241
CA4562957
147 K>Q No ClinGen
ExAC
gnomAD
rs758310320
CA4562958
147 K>R No ClinGen
ExAC
gnomAD
rs370555977
CA4562959
148 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1432180002
CA369830896
151 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA169027512
rs375076217
152 R>C No ClinGen
ESP
gnomAD
rs1358387738
CA369830904
152 R>H No ClinGen
TOPMed
rs757263899
CA4562961
153 H>Y No ClinGen
ExAC
gnomAD
rs1459900182
CA369830935
154 Q>R No ClinGen
gnomAD
CA4562963
rs371142177
155 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1390489472
CA369830982
158 T>A No ClinGen
gnomAD
rs779041329
COSM1271776
CA4562965
158 T>M oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1390489472
CA369830983
158 T>S No ClinGen
gnomAD
rs772486257
CA4562967
159 G>S No ClinGen
ExAC
gnomAD
CA369830999
rs1239590075
159 G>V No ClinGen
TOPMed
gnomAD
CA4562968
rs773565077
160 E>K No ClinGen
ExAC
gnomAD
rs747311346
CA4562969
161 R>Q No ClinGen
ExAC
gnomAD
CA369831078
rs1488055513
165 C>S No ClinGen
gnomAD
rs1488286464
CA369831091
166 P>R No ClinGen
TOPMed
CA4562972
rs759000894
167 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1239676011
CA369831096
167 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA369831130
rs1585089361
169 A>T No ClinGen
Ensembl
CA4562973
rs764774883
169 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA369831139
rs1354870236
170 R>W No ClinGen
TOPMed
rs376085338
CA169027572
171 R>C No ClinGen
ESP
gnomAD
rs368656037
CA4562975
171 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369831184
rs1231364412
173 S>R No ClinGen
TOPMed
CA369831177
rs1398464660
173 S>T No ClinGen
gnomAD
rs371575884
CA4562979
177 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1299970643
CA369831276
181 H>Y No ClinGen
TOPMed
CA4562982
rs779039948
182 Q>R No ClinGen
ExAC
gnomAD
CA4562983
rs748438465
184 T>I No ClinGen
ExAC
gnomAD
TCGA novel 184 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA169027608
rs564663652
185 H>P No ClinGen
1000Genomes
CA369831324
rs1200443379
185 H>Y No ClinGen
gnomAD
CA369831348
rs1483969193
187 R>Q No ClinGen
gnomAD
rs373730918
CA4562984
187 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1467292776
CA369831352
188 P>T No ClinGen
TOPMed
rs937163910
CA169027614
189 A>T No ClinGen
TOPMed
gnomAD
rs747397285
CA4562986
189 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA369831381
rs1421954047
190 T>S No ClinGen
gnomAD
TCGA novel 193 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs544005184
CA4562988
194 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs895929678
CA169027627
197 E>A No ClinGen
TOPMed
gnomAD
rs895929678
CA369831470
197 E>V No ClinGen
TOPMed
gnomAD
CA4562991
rs775143548
198 R>H No ClinGen
ExAC
gnomAD
rs1315867903
CA369831489
199 C>R No ClinGen
gnomAD
COSM1234580
rs1014250083
CA369831534
201 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
CA169027633
rs1014250083
201 R>S No ClinGen
TOPMed
CA369831568
rs1198941445
202 H>Q No ClinGen
TOPMed
CA4562992
rs762492993
203 Q>* No ClinGen
ExAC
gnomAD
rs1237912756
CA369831585
203 Q>R No ClinGen
gnomAD
rs1563260755
CA369831609
205 G>R No ClinGen
Ensembl
rs774102650
CA4562994
207 R>C No ClinGen
ExAC
gnomAD
rs761549870
CA4562995
207 R>H No ClinGen
ExAC
gnomAD
CA369831672
rs761549870
207 R>P No ClinGen
ExAC
gnomAD
rs1218017521
CA369831679
208 I>F No ClinGen
TOPMed
CA369831770
rs1279958349
211 R>L No ClinGen
TOPMed
CA369831758
rs1477723739
211 R>S No ClinGen
gnomAD
CA4562997
rs750383928
212 A>G No ClinGen
ExAC
gnomAD
rs1427602238
CA369831777
212 A>T No ClinGen
gnomAD
CA369831831
rs1361267799
214 A>S No ClinGen
TOPMed
gnomAD
rs1397407338
CA369831846
214 A>V No ClinGen
TOPMed
CA4562999
rs766240998
215 R>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 215 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752791090
CA4563000
215 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766240998
CA369831852
215 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 216 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4563001
rs758428651
216 D>N No ClinGen
ExAC
gnomAD
rs778002292
CA4563002
217 R>C No ClinGen
ExAC
gnomAD
rs747202943
CA4563003
217 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4563005
rs747202943
217 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs747202943
CA4563004
217 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1476050185
CA369831941
218 Q>H No ClinGen
TOPMed
CA169027699
rs1027875281
221 R>C No ClinGen
TOPMed
gnomAD
rs1185794260
CA369831988
222 A>P No ClinGen
TOPMed
CA369831990
rs1185794260
222 A>T No ClinGen
TOPMed
CA369832028
rs1353838205
223 G>D No ClinGen
TOPMed
gnomAD
rs1399189916
CA369832011
223 G>S No ClinGen
gnomAD
rs1488162925
CA369832059
CA369832070
225 H>Q No ClinGen
gnomAD
CA4563008
rs780657474
226 E>K No ClinGen
ExAC
gnomAD
rs1477132967
CA369832150
229 Q>* No ClinGen
gnomAD
rs1331246178
CA369832162
229 Q>L No ClinGen
gnomAD
rs1190858273
CA369832195
231 A>T No ClinGen
TOPMed
gnomAD
rs986266263
CA169027727
233 A>P No ClinGen
TOPMed
gnomAD
rs548808389
CA169027732
233 A>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs1358620498
CA369832238
234 R>C No ClinGen
TOPMed
gnomAD
rs1308018260
CA369832242
234 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs965530510
CA169027736
235 R>L No ClinGen
TOPMed
rs965530510
CA369832270
235 R>Q No ClinGen
TOPMed
rs1323902459
CA369832267
235 R>W No ClinGen
TOPMed
gnomAD
CA4563010
rs768245774
236 A>T No ClinGen
ExAC
gnomAD
CA369832322
rs1257839620
238 R>H No ClinGen
TOPMed
gnomAD
rs1257839620
CA369832319
238 R>P No ClinGen
TOPMed
gnomAD
CA369832329
rs1404255332
239 L>P No ClinGen
TOPMed
rs976426820
CA369832364
241 P>L No ClinGen
TOPMed
CA169027751
rs976426820
241 P>Q No ClinGen
TOPMed
CA169027754
rs912867000
242 G>W No ClinGen
TOPMed
CA169027755
rs945705658
244 P>L No ClinGen
TOPMed
CA369832492
rs1456710312
247 R>C No ClinGen
TOPMed
gnomAD
rs925860766
CA169027762
248 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1182550001
CA369832564
249 E>G No ClinGen
TOPMed
TCGA novel 252 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs559298938
CA169027767
255 L>F No ClinGen
1000Genomes
rs1302288974
CA369832867
258 G>S No ClinGen
gnomAD
rs1211590113
CA369832887
259 W>R No ClinGen
TOPMed
CA369832969
rs1359860504
261 G>S No ClinGen
TOPMed
rs867011334
CA169027776
264 G>R No ClinGen
gnomAD
rs528114919
CA4563013
265 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA169027782
rs895889345
265 A>V No ClinGen
TOPMed
gnomAD
CA369833136
rs1036467261
266 R>L No ClinGen
TOPMed
gnomAD
CA169027791
rs1036467261
266 R>Q No ClinGen
TOPMed
gnomAD
CA4563015
rs760332461
266 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1374821145
CA369833173
268 A>T No ClinGen
TOPMed
gnomAD
CA369833207
rs1459139800
269 V>F No ClinGen
gnomAD
rs763061517
CA4563018
271 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA369833281
rs1163805366
272 P>A No ClinGen
gnomAD
CA369833307
rs1415657513
272 P>H No ClinGen
gnomAD
CA369833279
rs1163805366
272 P>T No ClinGen
gnomAD
CA369833345
rs751788041
273 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA369833352
rs987729186
273 E>A No ClinGen
Ensembl
rs987729186
CA169027809
273 E>G No ClinGen
Ensembl
CA4563020
rs751788041
273 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA4563021
rs751788041
273 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1400667660
CA369833419
275 P>R No ClinGen
TOPMed
gnomAD
CA4563022
rs781212238
275 P>T No ClinGen
ExAC
CA4563023
rs571234693
276 G>C No ClinGen
1000Genomes
ExAC
gnomAD
CA369833512
rs1334688279
278 P>L No ClinGen
gnomAD
rs1286513428
CA369833547
279 R>C No ClinGen
gnomAD
CA369833555
rs1477712736
279 R>P No ClinGen
TOPMed
CA369833538
rs1286513428
279 R>S No ClinGen
gnomAD
rs1478874766
CA369833564
280 Q>* No ClinGen
Ensembl
rs1245108849
CA369833578
280 Q>H No ClinGen
TOPMed
CA369833623
rs1563260916
282 I>L No ClinGen
Ensembl
CA169027835
rs994806274
283 C>R No ClinGen
TOPMed
CA4563027
rs768335797
285 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA4563028
rs778560009
285 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1490512576
CA369833722
285 E>Q No ClinGen
TOPMed
rs1320196659
CA369833742
286 C>R No ClinGen
TOPMed
gnomAD
rs1320196659
CA369833740
286 C>S No ClinGen
TOPMed
gnomAD
CA369833752
rs1197009671
286 C>Y No ClinGen
gnomAD
CA4563031
rs772695295
289 S>R No ClinGen
ExAC
gnomAD
CA4563030
rs771773000
289 S>T No ClinGen
ExAC
gnomAD
CA4563032
rs760553963
290 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1163862776
CA369833942
291 T>S No ClinGen
gnomAD
CA369834066
rs1168142129
295 S>A No ClinGen
gnomAD
CA4563035
rs759457951
295 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA369834124
rs1336711000
297 N>T No ClinGen
gnomAD
CA4563036
rs764227237
301 R>H No ClinGen
ExAC
gnomAD
rs751670754
CA4563037
305 G>A No ClinGen
ExAC
gnomAD
CA369834270
rs1585089713
305 G>S No ClinGen
Ensembl
CA369834279
rs1216997883
306 E>Q No ClinGen
gnomAD
CA369834303
rs1345795954
307 R>C No ClinGen
TOPMed
gnomAD
COSM324558
CA369834304
rs1202320863
307 R>H lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA369834288
rs1345795954
307 R>S No ClinGen
TOPMed
gnomAD
rs1276598640
CA369834324
308 P>S No ClinGen
gnomAD
CA369834365
rs1160078737
309 Y>C No ClinGen
TOPMed
CA369834359
rs1187167969
309 Y>H No ClinGen
gnomAD
rs1316489617
CA369834382
310 A>G No ClinGen
gnomAD
rs1278122094
CA369834375
310 A>P No ClinGen
gnomAD
CA369834385
rs1316489617
310 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1190557525
CA369834396
311 C>Y No ClinGen
gnomAD
CA4563040
rs750575739
312 P>H No ClinGen
ExAC
gnomAD
CA4563042
rs780551176
313 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1299387009
CA369834515
315 G>A No ClinGen
gnomAD
CA4563043
rs754461368
315 G>S No ClinGen
ExAC
gnomAD
rs367911691
CA4563044
316 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779232070
CA4563045
317 R>C No ClinGen
ExAC
gnomAD
rs550325399
CA4563046
317 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1235720283
CA369834721
320 Q>E No ClinGen
TOPMed
gnomAD
CA369834944
rs1489144823
325 T>M No ClinGen
gnomAD
rs1203086107
CA369834951
326 R>W No ClinGen
TOPMed
gnomAD
CA369835019
rs1260791165
327 H>Q No ClinGen
gnomAD
rs1433359227
CA369835027
328 L>M No ClinGen
TOPMed
gnomAD
CA369835052
rs1200587989
328 L>R No ClinGen
gnomAD
CA169027939
rs976877185
329 R>C No ClinGen
TOPMed
CA369835081
rs1453321554
329 R>L No ClinGen
gnomAD
rs1278073398
CA369835138
331 H>Q No ClinGen
TOPMed
CA4563049
rs746623646
334 E>A No ClinGen
ExAC
gnomAD
rs1289887196
CA369835213
334 E>Q No ClinGen
TOPMed
rs770774418
CA4563050
335 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1391936970
CA369835276
335 R>L No ClinGen
gnomAD
rs1370316012
CA369835320
336 P>L No ClinGen
TOPMed
gnomAD
CA369835329
rs1370316012
336 P>R No ClinGen
TOPMed
gnomAD
rs1321879473
CA369835298
336 P>S No ClinGen
gnomAD
CA169027957
rs866216458
337 H>Y No ClinGen
Ensembl
rs1311560565
CA369835475
338 P>A No ClinGen
gnomAD
rs775247396
CA4563054
338 P>R No ClinGen
ExAC
gnomAD
rs1259888090
CA369835562
339 C>R No ClinGen
gnomAD
rs1488707896
CA369835580
339 C>S No ClinGen
gnomAD
CA369835574
rs1488707896
339 C>Y No ClinGen
gnomAD
CA4563056
rs767473307
340 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1262348763
CA369835607
340 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 341 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369835646
rs1467638506
341 H>P No ClinGen
TOPMed
gnomAD
rs62503787
CA169027972
341 H>Y No ClinGen
Ensembl
CA4563057
rs773540183
343 G>R No ClinGen
ExAC
gnomAD
CA369835741
rs1381641680
344 R>C No ClinGen
gnomAD
rs1417805056
CA369835742
344 R>L No ClinGen
gnomAD
rs1189840725
CA369835755
345 G>S No ClinGen
gnomAD
rs1369384744
CA369835785
346 F>I No ClinGen
gnomAD
rs766639706
CA4563059
347 R>S No ClinGen
ExAC
gnomAD
TCGA novel 348 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369835862
rs1324125517
348 Q>H No ClinGen
gnomAD
rs937271875
CA169027974
349 K>N No ClinGen
TOPMed
gnomAD
rs1238809124
CA369835876
349 K>Q No ClinGen
TOPMed
rs1393932834
CA369835903
350 Q>E No ClinGen
gnomAD
TCGA novel 351 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754271071
CA4563060
351 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA369835937
rs1333391321
351 H>Y No ClinGen
gnomAD
CA369835973
rs1255651679
352 L>V No ClinGen
TOPMed
CA369835988
rs1197299633
353 L>V No ClinGen
TOPMed
CA169027978
rs774721130
355 H>P No ClinGen
Ensembl
rs1322088052
CA369836063
356 L>V No ClinGen
TOPMed
gnomAD
rs765805539
CA369836083
357 R>C No ClinGen
ExAC
gnomAD
CA4563062
rs765805539
357 R>G No ClinGen
ExAC
gnomAD
CA4563063
rs753113075
357 R>H No ClinGen
ExAC
gnomAD
TCGA novel 358 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369836158
rs1479397696
361 P>S No ClinGen
gnomAD
CA369836177
rs1453702857
362 G>A No ClinGen
TOPMed
rs757980034
CA4563065
362 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs757980034
CA4563064
362 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA4563067
rs756909700
363 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1463598360
CA369836234
365 A>T No ClinGen
TOPMed
rs1036821642
CA169028011
366 A>V No ClinGen
TOPMed
rs780771330
CA369836284
367 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs780771330
CA4563068
367 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA369836292
rs1466302200
368 C>R No ClinGen
gnomAD
rs1352817492
CA369836329
369 P>L No ClinGen
gnomAD
CA4563069
rs745691525
371 C>G No ClinGen
ExAC
gnomAD
rs1379718487
CA369836378
372 G>R No ClinGen
gnomAD
CA369836416
rs1416559821
373 K>N No ClinGen
TOPMed
gnomAD
rs1235816009
CA369836468
376 R>C No ClinGen
TOPMed
rs1179907707
CA369836470
376 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1480690946
CA369836477
377 S>G No ClinGen
TOPMed
CA369836542
rs749168504
380 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA4563072
rs749168504
380 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1259530430
CA369836551
380 A>V No ClinGen
gnomAD
rs1203292936
CA369836580
382 R>C No ClinGen
TOPMed
gnomAD
rs1203292936
CA369836584
382 R>G No ClinGen
TOPMed
gnomAD
rs1393174992
CA369836589
382 R>H No ClinGen
TOPMed
rs1256063033
CA369836603
383 A>S No ClinGen
TOPMed
gnomAD
CA369836599
rs1256063033
383 A>T No ClinGen
TOPMed
gnomAD
CA369836626
rs1484555395
384 H>L No ClinGen
TOPMed
gnomAD
rs1367206326
CA369836636
384 H>Q No ClinGen
TOPMed
rs1186389099
CA369836644
385 Q>* No ClinGen
TOPMed
gnomAD
rs773168976
CA4563074
387 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1283922578
CA369836699
388 H>D No ClinGen
TOPMed
gnomAD
rs760777314
CA4563075
389 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1183468085
CA369836739
390 V>I No ClinGen
TOPMed
gnomAD
rs1256670662
CA369836768
391 A>V No ClinGen
TOPMed
gnomAD
CA369836793
rs1271697241
392 E>D No ClinGen
TOPMed
CA369836806
rs1223595244
393 P>R No ClinGen
TOPMed
CA369836815
rs1409601753
394 A>T No ClinGen
gnomAD
rs1176950635
CA369836866
396 P>L No ClinGen
gnomAD
CA369836853
rs1284092109
396 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA169028029
rs1008201392
399 E>K No ClinGen
TOPMed
gnomAD
rs1436544826
CA369836929
400 P>L No ClinGen
TOPMed
gnomAD
rs1436544826
CA369836926
400 P>R No ClinGen
TOPMed
gnomAD
rs1310949474
CA369838636
401 G>D No ClinGen
gnomAD
CA169028031
rs910429166
402 D>A No ClinGen
Ensembl
rs1303694736
CA369838645
402 D>N No ClinGen
TOPMed
CA169028032
rs1040642592
404 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1271713566
CA369838760
407 E>K No ClinGen
gnomAD
CA369838850
rs1157557291
410 P>R No ClinGen
TOPMed
gnomAD
CA369838920
rs1481132174
413 A>V No ClinGen
TOPMed
CA369838973
rs1209383378
416 P>L No ClinGen
TOPMed
gnomAD
rs1219333444
CA369838992
417 R>Q No ClinGen
gnomAD
rs1488824215
CA369838984
417 R>W No ClinGen
gnomAD
rs760019044
CA4563078
418 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA369839023
rs760019044
418 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1475235674
CA369839048
419 S>F No ClinGen
TOPMed
gnomAD
TCGA novel 421 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1452599368
CA369839085
421 R>Q No ClinGen
gnomAD
CA369839081
rs1427388453
421 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 422 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4563079
rs566052247
422 S>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1255644100
CA369839128
423 P>L No ClinGen
TOPMed
rs753309425
CA4563080
423 P>S No ClinGen
ExAC
gnomAD
rs753309425
CA369839114
423 P>T No ClinGen
ExAC
gnomAD
CA369839145
rs1429630284
424 G>W No ClinGen
gnomAD
rs764598004
CA4563082
425 A>D No ClinGen
ExAC
gnomAD
rs758828910
CA4563081
425 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA169028070
rs758828910
425 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs764598004
CA369839175
425 A>V No ClinGen
ExAC
gnomAD
CA369839196
rs750051003
426 R>L No ClinGen
ExAC
gnomAD
CA4563086
rs750051003
426 R>Q No ClinGen
ExAC
gnomAD
rs780859182
CA169028091
426 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA4563089
rs749044561
427 D>E No ClinGen
ExAC
gnomAD
rs779709166
CA4563088
427 D>Y No ClinGen
ExAC
rs13225910
CA4563090
VAR_059937
428 T>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4563091
rs778946651
428 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs771105072
CA4563093
429 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA369839296
rs1297528008
431 G>S No ClinGen
TOPMed
CA369839321
rs1160186619
432 R>Q No ClinGen
TOPMed
gnomAD
CA4563095
rs759668166
432 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1399838527
CA369839342
433 G>* No ClinGen
gnomAD
CA4563097
rs373589647
433 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1396306787
CA369839366
434 Q>R No ClinGen
gnomAD
rs763322529
CA4563098
435 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA369839388
rs1376950145
436 G>D No ClinGen
TOPMed
gnomAD
rs1376950145
CA369839392
436 G>V No ClinGen
TOPMed
gnomAD
CA369839394
rs1445025539
437 L>I No ClinGen
gnomAD
rs1350420975
CA369839407
438 A>T No ClinGen
gnomAD
rs1229321413
CA369839417
438 A>V No ClinGen
gnomAD
rs578241649
CA4563100
439 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs866641075
CA169028124
442 E>D No ClinGen
Ensembl
CA369839463
rs1238903385
442 E>G No ClinGen
gnomAD
rs971600256
CA169028123
442 E>K No ClinGen
TOPMed
COSM1449159
CA369839472
rs1429488706
443 P>L large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA369839475
rs1255687030
444 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA369839486
rs1183921593
445 Q>* No ClinGen
gnomAD
rs1469559458
CA369839500
445 Q>H No ClinGen
TOPMed
gnomAD
rs750143247
CA4563103
445 Q>R No ClinGen
ExAC
gnomAD
rs755725246
CA4563104
448 C>Y No ClinGen
ExAC
gnomAD
rs971912098
CA169028131
449 N>S No ClinGen
TOPMed
gnomAD
rs1163706711
CA369839575
450 E>G No ClinGen
TOPMed
gnomAD
TCGA novel 450 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369839569
rs1459580955
450 E>Q No ClinGen
TOPMed
gnomAD
rs1400415184
CA369839602
452 G>R No ClinGen
TOPMed
gnomAD
rs1400415184
CA369839600
452 G>S No ClinGen
TOPMed
gnomAD
CA369839612
rs1326279071
453 K>Q No ClinGen
gnomAD
CA4563105
rs779698536
454 S>N No ClinGen
ExAC
gnomAD
CA369839645
rs1449373283
454 S>R No ClinGen
gnomAD
rs779698536
CA4563106
454 S>T No ClinGen
ExAC
gnomAD
CA4563107
rs375346701
455 F>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771197113
CA4563110
456 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA4563109
rs748077265
456 S>T No ClinGen
ExAC
gnomAD
rs771197113
CA369839672
456 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA4563114
rs775738107
457 W>* No ClinGen
ExAC
gnomAD
CA4563113
rs769923873
457 W>G No ClinGen
ExAC
TOPMed
gnomAD
rs1463619415
CA369839723
459 S>L No ClinGen
TOPMed
rs1211465790
CA369839733
460 A>V No ClinGen
gnomAD
rs1563261467
CA369839767
463 I>T No ClinGen
Ensembl
CA369839787
rs1170182060
464 H>Q No ClinGen
TOPMed
rs910523680
COSM3698257
CA169028186
466 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1165704883
CA369839858
469 T>M No ClinGen
gnomAD
rs768983311
CA369839897
472 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA4563116
rs768983311
472 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1415581572
CA369839893
472 R>W No ClinGen
gnomAD
rs1414476531
CA369839912
473 P>L No ClinGen
gnomAD
rs1374043767
CA369839905
473 P>S No ClinGen
gnomAD
CA169028204
rs915267515
474 Y>S No ClinGen
Ensembl
TCGA novel 475 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762303555
CA4563118
475 P>L No ClinGen
ExAC
rs376251078
CA4563117
475 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369839948
rs1225487818
476 C>F No ClinGen
gnomAD
CA4563119
rs767944623
477 P>T No ClinGen
ExAC
gnomAD
CA4563120
rs772721315
478 E>* No ClinGen
ExAC
gnomAD
rs1355342892
CA369839975
478 E>A No ClinGen
TOPMed
rs1263529867
CA369839978
478 E>D No ClinGen
TOPMed
CA169028210
rs955960241
479 C>Y No ClinGen
TOPMed
gnomAD
rs1262146423
CA369840007
480 G>A No ClinGen
gnomAD
CA369840005
rs1262146423
480 G>D No ClinGen
gnomAD
rs1209972499
CA369839998
480 G>S No ClinGen
gnomAD
rs760181859
CA4563121
481 R>C No ClinGen
ExAC
gnomAD
CA4563122
rs527417474
482 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA369840024
rs527417474
482 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA4563123
rs753499669
482 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs765110841
CA4563125
488 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs758418901
CA169028259
489 L>M No ClinGen
ExAC
gnomAD
CA4563128
rs777798703
490 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs745960670
CA4563129
491 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 491 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1585090255
CA369840154
492 H>Q No ClinGen
Ensembl
CA369840149
rs1434390404
492 H>Y No ClinGen
gnomAD
rs756185273
CA4563130
COSM746037
493 R>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1317837893
CA369840159
493 R>W No ClinGen
TOPMed
gnomAD
CA369840169
rs1236497691
494 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 494 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369840183
rs1486276304
495 N>I No ClinGen
TOPMed
rs1486276304
CA369840185
495 N>S No ClinGen
TOPMed
CA369840261
rs1233440783
499 E>Q No ClinGen
gnomAD
CA169028287
rs914207861
500 R>Q No ClinGen
TOPMed
gnomAD
rs749508336
CA4563133
500 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1042609336
CA169028312
501 P>L No ClinGen
TOPMed
gnomAD
rs947028093
CA169028295
501 P>S No ClinGen
TOPMed
rs774702423
CA4563135
502 Y>N No ClinGen
ExAC
TOPMed
gnomAD
CA4563137
rs111426426
503 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA369840354
rs111426426
503 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs111426426
CA169028366
503 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs202104407
CA4563136
503 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369840389
rs1585090293
505 P>R No ClinGen
Ensembl
rs760144248
CA4563139
506 A>S No ClinGen
ExAC
gnomAD
CA369840425
rs1365935189
508 G>S No ClinGen
TOPMed
gnomAD
rs1401408790
CA369840466
509 R>C No ClinGen
gnomAD
CA369840495
rs1158214202
510 G>A No ClinGen
gnomAD
CA369840487
rs1158214202
510 G>D No ClinGen
gnomAD
CA369840480
rs1452001531
510 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA369840536
rs1443356500
512 S>I No ClinGen
gnomAD
CA369840535
rs1443356500
512 S>N No ClinGen
gnomAD
CA369840544
rs1324019598
513 Q>* No ClinGen
gnomAD
CA369840641
rs1440114938
516 H>Q No ClinGen
gnomAD
rs1373343658
CA369840644
517 L>V No ClinGen
TOPMed
gnomAD
CA369840682
rs1301867461
518 L>R No ClinGen
TOPMed
TCGA novel 521 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA169028391
rs930010371
522 R>H No ClinGen
TOPMed
CA369840791
rs764920553
523 V>L No ClinGen
ExAC
gnomAD
CA4563144
rs764920553
523 V>M No ClinGen
ExAC
gnomAD
rs1012587187
CA369840823
524 H>Q No ClinGen
TOPMed
gnomAD
CA369840832
rs1335130868
525 R>C No ClinGen
TOPMed
gnomAD
rs1335130868
CA369840830
525 R>G No ClinGen
TOPMed
gnomAD
CA369840834
rs1215144246
525 R>H No ClinGen
TOPMed
gnomAD
rs1335130868
CA369840829
525 R>S No ClinGen
TOPMed
gnomAD
rs752556428
CA169028414
526 A>P No ClinGen
ExAC
gnomAD
CA4563145
rs752556428
526 A>T No ClinGen
ExAC
gnomAD
rs1467598150
CA369840854
526 A>V No ClinGen
gnomAD
CA4563148
rs371092824
527 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1253199522
CA369840861
527 A>T No ClinGen
gnomAD
CA4563147
rs371092824
527 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4563150
rs780174059
529 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs1172985352
CA369840898
529 A>S No ClinGen
Ensembl
CA4563151
rs747125740
531 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA369840951
rs1162998196
531 S>N No ClinGen
gnomAD
CA369840956
rs1393854266
531 S>R No ClinGen
TOPMed
gnomAD
rs1462503647
CA369840960
532 P>T No ClinGen
gnomAD
CA169028434
rs971851704
533 K>N No ClinGen
TOPMed
gnomAD
CA169028433
rs1018252747
533 K>R No ClinGen
gnomAD
CA369841019
rs1306072024
534 E>* No ClinGen
gnomAD
TCGA novel 534 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA169028435
rs866045498
536 A>E No ClinGen
Ensembl
CA369841079
rs1355808846
537 R>C No ClinGen
gnomAD
CA4563153
rs779055563
537 R>H No ClinGen
ExAC

No associated diseases with Q96BV0

7 regional properties for Q96BV0

Type Name Position InterPro Accession
domain Protein kinase domain 509 - 820 IPR000719
domain S-locus glycoprotein domain 215 - 323 IPR000858
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 510 - 772 IPR001245
domain Bulb-type lectin domain 27 - 180 IPR001480
domain PAN/Apple domain 345 - 425 IPR003609
active_site Serine/threonine-protein kinase, active site 630 - 642 IPR008271
domain S-locus receptor kinase, C-terminal 775 - 820 IPR021820

Functions

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

1 GO annotations of cellular component

Name Definition
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name Definition
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
metal ion binding Binding to a metal ion.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.

1 GO annotations of biological process

Name Definition
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

177 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q08DS3 OSR1 Protein odd-skipped-related 1 Bos taurus (Bovine) PR
Q2VWH6 FEZF2 Fez family zinc finger protein 2 Bos taurus (Bovine) PR
A6QNZ0 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Bos taurus (Bovine) PR
A7MBI1 ZFP69 Zinc finger protein 69 homolog Bos taurus (Bovine) PR
Q08705 CTCF Transcriptional repressor CTCF Gallus gallus (Chicken) PR
O42409 GFI1B Zinc finger protein Gfi-1b Gallus gallus (Chicken) PR
A2T6W2 ZNF449 Zinc finger protein 449 Pan troglodytes (Chimpanzee) PR
Q9U405 grau Transcription factor grauzone Drosophila melanogaster (Fruit fly) PR
Q7K0S9 sug Zinc finger protein GLIS2 homolog Drosophila melanogaster (Fruit fly) PR
P20385 Cf2 Chorion transcription factor Cf2 Drosophila melanogaster (Fruit fly) PR
Q86P48 ATbp AT-rich binding protein Drosophila melanogaster (Fruit fly) PR
P28698 MZF1 Myeloid zinc finger 1 Homo sapiens (Human) PR
Q9NTW7 ZFP64 Zinc finger protein 64 Homo sapiens (Human) PR
O14978 ZNF263 Zinc finger protein 263 Homo sapiens (Human) PR
O60304 ZNF500 Zinc finger protein 500 Homo sapiens (Human) PR
P08151 GLI1 Zinc finger protein GLI1 Homo sapiens (Human) PR
Q9UFB7 ZBTB47 Zinc finger and BTB domain-containing protein 47 Homo sapiens (Human) PR
P18146 EGR1 Early growth response protein 1 Homo sapiens (Human) PR
Q9Y5W3 KLF2 Krueppel-like factor 2 Homo sapiens (Human) PR
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 Homo sapiens (Human) PR
P25490 YY1 Transcriptional repressor protein YY1 Homo sapiens (Human) SS
P49711 CTCF Transcriptional repressor CTCF Homo sapiens (Human) PR
Q9NQX1 PRDM5 PR domain zinc finger protein 5 Homo sapiens (Human) PR
Q9HBE1 PATZ1 POZ-, AT hook-, and zinc finger-containing protein 1 Homo sapiens (Human) PR
Q8TAX0 OSR1 Protein odd-skipped-related 1 Homo sapiens (Human) PR
Q9UL58 ZNF215 Zinc finger protein 215 Homo sapiens (Human) PR
Q8TBJ5 FEZF2 Fez family zinc finger protein 2 Homo sapiens (Human) PR
Q96SR6 ZNF382 Zinc finger protein 382 Homo sapiens (Human) PR
Q96IT1 ZNF496 Zinc finger protein 496 Homo sapiens (Human) PR
Q96N95 ZNF396 Zinc finger protein 396 Homo sapiens (Human) PR
Q9ULJ3 ZBTB21 Zinc finger and BTB domain-containing protein 21 Homo sapiens (Human) PR
O75840 KLF7 Krueppel-like factor 7 Homo sapiens (Human) PR
Q9H9D4 ZNF408 Zinc finger protein 408 Homo sapiens (Human) PR
Q13127 REST RE1-silencing transcription factor Homo sapiens (Human) PR
Q8IZM8 ZNF654 Zinc finger protein 654 Homo sapiens (Human) PR
Q14526 HIC1 Hypermethylated in cancer 1 protein Homo sapiens (Human) PR
P17022 ZNF18 Zinc finger protein 18 Homo sapiens (Human) PR
Q86XF7 ZNF575 Zinc finger protein 575 Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
P17029 ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 Homo sapiens (Human) PR
Q8N680 ZBTB2 Zinc finger and BTB domain-containing protein 2 Homo sapiens (Human) PR
O95625 ZBTB11 Zinc finger and BTB domain-containing protein 11 Homo sapiens (Human) PR
Q9NPC7 MYNN Myoneurin Homo sapiens (Human) PR
Q8NF99 ZNF397 Zinc finger protein 397 Homo sapiens (Human) PR
Q63HK3 ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 Homo sapiens (Human) PR
Q15776 ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
O95125 ZNF202 Zinc finger protein 202 Homo sapiens (Human) PR
Q05516 ZBTB16 Zinc finger and BTB domain-containing protein 16 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q5VTD9 GFI1B Zinc finger protein Gfi-1b Homo sapiens (Human) PR
Q9NQV6 PRDM10 PR domain zinc finger protein 10 Homo sapiens (Human) PR
Q9Y2D9 ZNF652 Zinc finger protein 652 Homo sapiens (Human) PR
Q5TC79 ZBTB37 Zinc finger and BTB domain-containing protein 37 Homo sapiens (Human) PR
Q9Y4E5 ZNF451 E3 SUMO-protein ligase ZNF451 Homo sapiens (Human) PR
Q8ND82 ZNF280C Zinc finger protein 280C Homo sapiens (Human) PR
Q49AA0 ZFP69 Zinc finger protein 69 homolog Homo sapiens (Human) PR
O43298 ZBTB43 Zinc finger and BTB domain-containing protein 43 Homo sapiens (Human) PR
Q9Y330 ZBTB12 Zinc finger and BTB domain-containing protein 12 Homo sapiens (Human) PR
Q13105 ZBTB17 Zinc finger and BTB domain-containing protein 17 Homo sapiens (Human) PR
Q9BRR0 ZKSCAN3 Zinc finger protein with KRAB and SCAN domains 3 Homo sapiens (Human) PR
Q969J2 ZKSCAN4 Zinc finger protein with KRAB and SCAN domains 4 Homo sapiens (Human) PR
P49910 ZNF165 Zinc finger protein 165 Homo sapiens (Human) PR
Q9Y4X4 KLF12 Krueppel-like factor 12 Homo sapiens (Human) PR
P10074 ZBTB48 Telomere zinc finger-associated protein Homo sapiens (Human) PR
P17010 ZFX Zinc finger X-chromosomal protein Homo sapiens (Human) PR
Q9H5H4 ZNF768 Zinc finger protein 768 Homo sapiens (Human) PR
Q6NSZ9 ZSCAN25 Zinc finger and SCAN domain-containing protein 25 Homo sapiens (Human) PR
Q86UZ6 ZBTB46 Zinc finger and BTB domain-containing protein 46 Homo sapiens (Human) PR
Q9NX65 ZSCAN32 Zinc finger and SCAN domain-containing protein 32 Homo sapiens (Human) PR
O14771 ZNF213 Zinc finger protein 213 Homo sapiens (Human) PR
Q8IWY8 ZSCAN29 Zinc finger and SCAN domain-containing protein 29 Homo sapiens (Human) PR
Q8NCP5 ZBTB44 Zinc finger and BTB domain-containing protein 44 Homo sapiens (Human) PR
P41182 BCL6 B-cell lymphoma 6 protein Homo sapiens (Human) PR
Q9NQX0 PRDM6 Putative histone-lysine N-methyltransferase PRDM6 Homo sapiens (Human) PR
Q9BU19 ZNF692 Zinc finger protein 692 Homo sapiens (Human) PR
Q08AG5 ZNF844 Zinc finger protein 844 Homo sapiens (Human) PR
Q6R2W3 ZBED9 SCAN domain-containing protein 3 Homo sapiens (Human) PR
P98182 ZNF200 Zinc finger protein 200 Homo sapiens (Human) PR
O15156 ZBTB7B Zinc finger and BTB domain-containing protein 7B Homo sapiens (Human) PR
Q6ZMS7 ZNF783 Zinc finger protein 783 Homo sapiens (Human) PR
P59923 ZNF445 Zinc finger protein 445 Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 Homo sapiens (Human) PR
Q99612 KLF6 Krueppel-like factor 6 Homo sapiens (Human) PR
Q8TD17 ZNF398 Zinc finger protein 398 Homo sapiens (Human) PR
P52739 ZNF131 Zinc finger protein 131 Homo sapiens (Human) PR
A6NGD5 ZSCAN5C Zinc finger and SCAN domain-containing protein 5C Homo sapiens (Human) PR
Q05215 EGR4 Early growth response protein 4 Homo sapiens (Human) PR
Q7Z398 ZNF550 Zinc finger protein 550 Homo sapiens (Human) PR
Q9Y2K1 ZBTB1 Zinc finger and BTB domain-containing protein 1 Homo sapiens (Human) PR
Q96N20 ZNF75A Zinc finger protein 75A Homo sapiens (Human) PR
A6NJL1 ZSCAN5B Zinc finger and SCAN domain-containing protein 5B Homo sapiens (Human) PR
A1YPR0 ZBTB7C Zinc finger and BTB domain-containing protein 7C Homo sapiens (Human) PR
Q9NWS9 ZNF446 Zinc finger protein 446 Homo sapiens (Human) PR
P24278 ZBTB25 Zinc finger and BTB domain-containing protein 25 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
O43296 ZNF264 Zinc finger protein 264 Homo sapiens (Human) PR
P51508 ZNF81 Zinc finger protein 81 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 Homo sapiens (Human) PR
Q5JNZ3 ZNF311 Zinc finger protein 311 Homo sapiens (Human) PR
Q6PG37 ZNF790 Zinc finger protein 790 Homo sapiens (Human) PR
Q9UK11 ZNF223 Zinc finger protein 223 Homo sapiens (Human) PR
Q9Y2L8 ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 Homo sapiens (Human) PR
Q96SZ4 ZSCAN10 Zinc finger and SCAN domain-containing protein 10 Homo sapiens (Human) PR
Q5FWF6 ZNF789 Zinc finger protein 789 Homo sapiens (Human) PR
O08584 Klf6 Krueppel-like factor 6 Mus musculus (Mouse) PR
Q61164 Ctcf Transcriptional repressor CTCF Mus musculus (Mouse) PR
Q810A1 Znf18 Zinc finger protein 18 Mus musculus (Mouse) PR
Q8BGS3 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Mus musculus (Mouse) PR
Q00899 Yy1 Transcriptional repressor protein YY1 Mus musculus (Mouse) PR
P41183 Bcl6 B-cell lymphoma 6 protein homolog Mus musculus (Mouse) PR
Q9DAI4 Zbtb43 Zinc finger and BTB domain-containing protein 43 Mus musculus (Mouse) PR
O70237 Gfi1b Zinc finger protein Gfi-1b Mus musculus (Mouse) PR
Q99KZ6 Znf639 Zinc finger protein 639 Mus musculus (Mouse) PR
Q9Z1D9 Znf394 Zinc finger protein 394 Mus musculus (Mouse) PR
Q9CXE0 Prdm5 PR domain zinc finger protein 5 Mus musculus (Mouse) PR
P43300 Egr3 Early growth response protein 3 Mus musculus (Mouse) PR
Q9DAU9 Znf654 Zinc finger protein 654 Mus musculus (Mouse) PR
Q9R1Y5 Hic1 Hypermethylated in cancer 1 protein Mus musculus (Mouse) PR
Q8R0T2 Znf768 Zinc finger protein 768 Mus musculus (Mouse) PR
Q9WVG7 Osr1 Protein odd-skipped-related 1 Mus musculus (Mouse) PR
Q8VCZ7 Zbtb7c Zinc finger and BTB domain-containing protein 7C Mus musculus (Mouse) PR
Q91VN1 Znf24 Zinc finger protein 24 Mus musculus (Mouse) PR
Q9DB38 Znf580 Zinc finger protein 580 Mus musculus (Mouse) PR
A7KBS4 Zscan4d Zinc finger and SCAN domain containing protein 4D Mus musculus (Mouse) PR
Q91VW9 Zkscan3 Zinc finger protein with KRAB and SCAN domains 3 Mus musculus (Mouse) PR
P10925 Zfy1 Zinc finger Y-chromosomal protein 1 Mus musculus (Mouse) PR
P08046 Egr1 Early growth response protein 1 Mus musculus (Mouse) PR
Q3TTC2 Yy2 Transcription factor YY2 Mus musculus (Mouse) PR
Q3UTQ7 Prdm10 PR domain zinc finger protein 10 Mus musculus (Mouse) PR
Q6P3Y5 Znf280c Zinc finger protein 280C Mus musculus (Mouse) PR
Q9ERU3 Znf22 Zinc finger protein 22 Mus musculus (Mouse) PR
Q8VIG1 Rest RE1-silencing transcription factor Mus musculus (Mouse) PR
Q9Z1D8 Zkscan5 Zinc finger protein with KRAB and SCAN domains 5 Mus musculus (Mouse) PR
Q8BID6 Zbtb46 Zinc finger and BTB domain-containing protein 46 Mus musculus (Mouse) PR
P17012 Zfx Zinc finger X-chromosomal protein Mus musculus (Mouse) PR
Q9WUK6 Zbtb18 Zinc finger and BTB domain-containing protein 18 Mus musculus (Mouse) PR
O35738 Klf12 Krueppel-like factor 12 Mus musculus (Mouse) PR
B2RXC5 Znf382 Zinc finger protein 382 Mus musculus (Mouse) PR
O08900 Ikzf3 Zinc finger protein Aiolos Mus musculus (Mouse) PR
Q5DU09 Znf652 Zinc finger protein 652 Mus musculus (Mouse) PR
Q5RJ54 Zscan26 Zinc finger and SCAN domain-containing protein 26 Mus musculus (Mouse) PR
Q8BLM0 Klf8 Krueppel-like factor 8 Mus musculus (Mouse) PR
Q99JB0 Klf7 Krueppel-like factor 7 Mus musculus (Mouse) PR
Q8R0A2 Zbtb44 Zinc finger and BTB domain-containing protein 44 Mus musculus (Mouse) PR
P20662 Zfy2 Zinc finger Y-chromosomal protein 2 Mus musculus (Mouse) PR
Q80VJ6 Zscan4c Zinc finger and SCAN domain containing protein 4C Mus musculus (Mouse) PR
Q3URS2 Zscan4f Zinc finger and SCAN domain containing protein 4F Mus musculus (Mouse) PR
Q60980 Klf3 Krueppel-like factor 3 Mus musculus (Mouse) PR
Q8K3J5 Znf131 Zinc finger protein 131 Mus musculus (Mouse) PR
Q8BI73 Znf775 Zinc finger protein 775 Mus musculus (Mouse) PR
Q9Z2K3 Znf394 Zinc finger protein 394 Rattus norvegicus (Rat) PR
Q642B9 Znf18 Zinc finger protein 18 Rattus norvegicus (Rat) PR
B0K011 Osr1 Protein odd-skipped-related 1 Rattus norvegicus (Rat) PR
D3ZUU2 Gzf1 GDNF-inducible zinc finger protein 1 Rattus norvegicus (Rat) PR
B1WBU4 Zbtb8a Zinc finger and BTB domain-containing protein 8A Rattus norvegicus (Rat) PR
Q7TNK3 Znf24 Zinc finger protein 24 Rattus norvegicus (Rat) PR
O35819 Klf6 Krueppel-like factor 6 Rattus norvegicus (Rat) PR
Q9R1D1 Ctcf Transcriptional repressor CTCF Rattus norvegicus (Rat) PR
P43301 Egr3 Early growth response protein 3 Rattus norvegicus (Rat) PR
P08154 Egr1 Early growth response protein 1 Rattus norvegicus (Rat) PR
A0JPL0 Znf382 Zinc finger protein 382 Rattus norvegicus (Rat) PR
Q4KLI1 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Rattus norvegicus (Rat) PR
A1L1J6 Znf652 Zinc finger protein 652 Rattus norvegicus (Rat) PR
Q9SHD0 ZAT4 Zinc finger protein ZAT4 Arabidopsis thaliana (Mouse-ear cress) PR
Q0P4X6 zbtb44 Zinc finger and BTB domain-containing protein 44 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
A4II20 egr1 Early growth response protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6P882 zbtb8a.2 Zinc finger and BTB domain-containing protein 8A.2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q567C6 znf367 Zinc finger protein 367 Danio rerio (Zebrafish) (Brachydanio rerio) PR
A7Y7X5 znf711 Zinc finger protein 711 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MESGLAGNGT GAGLVMKVKQ EKPERLLQTL APQAMLVEKD KENIFQQHRG LPPRQTMGRP
70 80 90 100 110 120
RALGGQEESG SPRWAPPTEQ DAGLAGRAPG SASGPLSPSL SSGEGHFVCL DCGKRFSWWS
130 140 150 160 170 180
SLKIHQRTHT GEKPYLCGKC GKSFSQKPNL ARHQRHHTGE RPFCCPECAR RFSQKQHLLK
190 200 210 220 230 240
HQKTHSRPAT HSCPECERCF RHQVGLRIHQ RAHARDRQGS RAGLHELIQD AAARRACRLQ
250 260 270 280 290 300
PGPPRGRPEW AWLGLCQGWW GQPGARAAVS GPEGPGEPRQ FICNECGKSF TWWSSLNIHQ
310 320 330 340 350 360
RIHTGERPYA CPECGRRFSQ KPNLTRHLRN HTGERPHPCP HCGRGFRQKQ HLLKHLRTHL
370 380 390 400 410 420
PGAQAAPCPS CGKSCRSRAA LRAHQRAHAV AEPAVPAGEP GDQPQAEAIP GLAARPRSSQ
430 440 450 460 470 480
RSPGARDTLW GRGQAGLAGP GEPRQFICNE CGKSFSWWSA LTIHQRIHTG ERPYPCPECG
490 500 510 520 530
RRFSQKPNLT RHRRNHTGER PYLCPACGRG FSQKQHLLKH QRVHRAAPAC SPKEEAR