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 Q96FK6

Entry ID Method Resolution Chain Position Source
AF-Q96FK6-F1 Predicted AlphaFoldDB

294 variants for Q96FK6

Variant ID(s) Position Change Description Diseaes Association Provenance
CA390114158
rs1318497582
4 I>F No ClinGen
gnomAD
rs200143998
CA262476395
4 I>M No ClinGen
1000Genomes
TOPMed
rs750241514
CA7218703
4 I>T No ClinGen
ExAC
gnomAD
CA390114159
rs1318497582
4 I>V No ClinGen
gnomAD
CA7218702
rs764994750
5 E>G No ClinGen
ExAC
gnomAD
CA390114146
rs1378370767
6 E>* No ClinGen
gnomAD
CA7218700
rs753811409
9 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs764140916
CA7218699
13 I>V No ClinGen
ExAC
TOPMed
rs1450813879
CA390114092
14 V>F No ClinGen
gnomAD
rs760824874
CA7218698
16 C>Y No ClinGen
ExAC
gnomAD
rs1247642766
CA390114042
21 K>R No ClinGen
gnomAD
CA7218696
rs767886112
23 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA390114029
rs1187840836
23 P>S No ClinGen
TOPMed
rs1473513160
CA390114025
24 T>P No ClinGen
TOPMed
CA7218694
CA7218695
rs774900502
25 Y>* No ClinGen
ExAC
TOPMed
rs775556998
CA7218693
25 Y>* No ClinGen
ExAC
TOPMed
CA390114005
rs1291347600
27 L>F No ClinGen
gnomAD
CA390114007
rs1291347600
27 L>V No ClinGen
gnomAD
CA7218692
rs771389100
29 I>R No ClinGen
ExAC
gnomAD
CA390113979
rs1158024560
31 T>A No ClinGen
gnomAD
CA7218690
rs749824511
COSM553514
36 Q>* lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA390113949
rs749824511
36 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs935362687
CA262476393
37 A>T No ClinGen
TOPMed
gnomAD
CA7218687
rs746532791
38 G>V No ClinGen
ExAC
gnomAD
rs924037812
CA262476392
40 E>K No ClinGen
Ensembl
rs758096970
CA7218685
41 N>K No ClinGen
ExAC
gnomAD
CA262476391
rs369057434
42 L>V No ClinGen
gnomAD
CA262476389
rs946840690
47 C>Y No ClinGen
Ensembl
TCGA novel 50 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778748751
CA7218683
51 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs145676848
CA7218682
52 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753521763
CA7218681
53 R>T No ClinGen
ExAC
gnomAD
rs368471602
CA7218679
56 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764100265
CA7218680
56 D>N No ClinGen
ExAC
gnomAD
rs901666396
CA262476386
57 K>R No ClinGen
TOPMed
gnomAD
rs11559174
CA262476385
58 E>G No ClinGen
Ensembl
rs759875833
CA7218676
62 V>E No ClinGen
ExAC
TOPMed
gnomAD
CA390113778
rs767678927
62 V>I No ClinGen
ExAC
gnomAD
rs767678927
CA7218677
62 V>L No ClinGen
ExAC
gnomAD
rs200681506
CA7218673
64 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA262476382
rs990207864
64 R>Q No ClinGen
TOPMed
gnomAD
rs773382192
CA7218672
67 S>N No ClinGen
ExAC
gnomAD
rs1170062591
CA390113737
68 G>V No ClinGen
TOPMed
rs74383752
CA262476381
70 P>S No ClinGen
TOPMed
gnomAD
rs1404269796
CA390113714
72 L>H No ClinGen
TOPMed
CA7218669
rs775021483
74 N>D No ClinGen
ExAC
gnomAD
rs1466124751
CA390113702
74 N>S No ClinGen
gnomAD
TCGA novel 75 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs75569502
CA262476379
77 R>K No ClinGen
TOPMed
gnomAD
CA262476378
rs962037015
78 F>C No ClinGen
Ensembl
CA390113638
rs1468744898
79 A>E No ClinGen
TOPMed
gnomAD
rs1468744898
CA390113636
79 A>V No ClinGen
TOPMed
gnomAD
rs745579304
CA7218667
80 N>D No ClinGen
ExAC
gnomAD
rs1433225460
CA390113618
81 S>P No ClinGen
TOPMed
rs778552613
CA7218666
82 C>R No ClinGen
ExAC
gnomAD
rs1473655000
CA390113586
83 D>G No ClinGen
gnomAD
TCGA novel 83 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7218664
rs756794878
84 S>G No ClinGen
ExAC
gnomAD
CA7218662
rs140159540
86 Y>F No ClinGen
1000Genomes
ExAC
gnomAD
CA390113534
rs940317302
87 S>A No ClinGen
TOPMed
gnomAD
CA262476375
rs940317302
87 S>P No ClinGen
TOPMed
gnomAD
CA262476374
rs918064794
88 A>G No ClinGen
TOPMed
gnomAD
rs777385564
CA7218661
88 A>S No ClinGen
ExAC
gnomAD
CA614738533
rs1322810511
89 C>* No ClinGen
gnomAD
rs992348595
CA262476373
89 C>Y No ClinGen
TOPMed
gnomAD
rs1595013008
CA390113454
93 T>I No ClinGen
Ensembl
rs1006352832
CA262476371
95 K>E No ClinGen
gnomAD
rs752646441
CA7218659
96 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA262476369
rs968117645
98 D>E No ClinGen
TOPMed
gnomAD
rs944955056
CA262476368
100 R>* No ClinGen
TOPMed
gnomAD
rs769328267
CA7218658
100 R>Q No ClinGen
ExAC
gnomAD
CA7218657
rs755092203
101 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA390113337
rs1262476077
103 R>G No ClinGen
TOPMed
gnomAD
rs1009886361
CA262476367
103 R>S No ClinGen
TOPMed
gnomAD
TCGA novel 104 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751630935
CA7218656
105 K>E No ClinGen
ExAC
gnomAD
TCGA novel 105 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201238690
CA7218654
112 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs201238690
CA262476365
112 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1389667413
CA390113185
113 Y>C No ClinGen
TOPMed
rs1386421939
CA390113173
114 P>S No ClinGen
TOPMed
CA262476362
rs867110082
115 S>A No ClinGen
Ensembl
CA7218650
rs762450286
116 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA7218651
rs762450286
116 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1459180736
CA390113136
117 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA262476360
rs1049802936
120 S>N No ClinGen
TOPMed
gnomAD
CA262476361
rs889833191
120 S>R No ClinGen
TOPMed
gnomAD
CA390113077
rs1416039138
121 F>C No ClinGen
gnomAD
rs759055176
CA7218647
124 N>S No ClinGen
ExAC
gnomAD
CA7218646
rs773812709
125 C>Y No ClinGen
ExAC
gnomAD
CA390113021
rs1566788038
126 N>T No ClinGen
Ensembl
rs1210317344
CA390113013
127 D>G No ClinGen
gnomAD
rs1424360120
CA390113015
127 D>H No ClinGen
Ensembl
rs1023719305
CA262476358
128 H>R No ClinGen
gnomAD
TCGA novel 130 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390112978
rs770642898
132 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA7218643
rs770642898
COSM553515
132 A>S lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1309876605
CA390112965
134 T>I No ClinGen
gnomAD
rs1244615193
CA390112960
135 E>* No ClinGen
gnomAD
CA390112958
rs1268201266
135 E>G No ClinGen
TOPMed
CA7218641
rs148702795
136 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7218639
rs748151073
139 D>G No ClinGen
ExAC
gnomAD
rs1383237011
CA390112933
139 D>N No ClinGen
gnomAD
CA390112926
rs1181133678
140 D>Y No ClinGen
TOPMed
CA7218637
COSM956881
rs568191399
141 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs182117567
CA7218636
144 V>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 144 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs145041046
CA7218635
145 F>L No ClinGen
ESP
ExAC
gnomAD
CA390112880
rs1190406827
146 W>* No ClinGen
gnomAD
rs1390908091
CA390112882
146 W>L No ClinGen
gnomAD
rs1465350616
CA390112886
146 W>R No ClinGen
gnomAD
rs149880774
CA7218633
149 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765693183
CA7218632
150 M>L No ClinGen
ExAC
gnomAD
rs1289164369
CA390112855
150 M>T No ClinGen
gnomAD
TCGA novel 152 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764619523
CA7218629
156 S>C No ClinGen
ExAC
gnomAD
CA7218630
rs754138741
156 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs764619523
CA390112811
156 S>Y No ClinGen
ExAC
gnomAD
rs528213124
CA262476355
160 D>V No ClinGen
1000Genomes
CA7218628
rs761125927
161 S>L No ClinGen
ExAC
CA7218626
rs770313000
162 L>F No ClinGen
ExAC
gnomAD
CA262476354
rs749358111
163 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs749358111
CA7218625
163 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA390112763
rs1369938997
164 A>V No ClinGen
gnomAD
rs769427475
CA7218623
165 Y>F No ClinGen
ExAC
gnomAD
rs1307738382
CA390112762
165 Y>N No ClinGen
TOPMed
CA7218622
rs747960741
166 S>* No ClinGen
ExAC
gnomAD
rs781092628
CA7218621
168 T>A No ClinGen
ExAC
gnomAD
rs1595012563
CA390112734
169 H>R No ClinGen
Ensembl
CA7218620
rs768735877
170 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA7218619
rs746920533
172 D>V No ClinGen
ExAC
gnomAD
CA390112696
rs1288479538
174 T>I No ClinGen
TOPMed
CA390112697
rs1288479538
174 T>S No ClinGen
TOPMed
rs780247394
CA7218618
177 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7218617
rs758395247
177 R>H No ClinGen
ExAC
gnomAD
rs1434716533
CA390112663
179 H>Q No ClinGen
TOPMed
gnomAD
rs780342333
CA262476352
180 P>A No ClinGen
Ensembl
TCGA novel 181 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376554740
CA7218616
183 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390112631
rs1204184387
184 N>S No ClinGen
TOPMed
rs572281010
CA7218615
185 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1483213368
CA390112624
185 M>R No ClinGen
gnomAD
rs572281010
CA7218614
185 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1276152718
CA390112619
186 V>L No ClinGen
gnomAD
CA390112607
rs1337954010
188 S>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7218612
rs764423387
189 G>D No ClinGen
ExAC
gnomAD
rs753135459
CA7218610
190 S>L No ClinGen
ExAC
gnomAD
CA7218611
rs370460278
190 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1404562749
CA390112588
191 S>F No ClinGen
gnomAD
rs558790163
CA7218609
194 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs762381683
CA7218608
196 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs772710618
CA7218607
199 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA7218605
rs1555373501
200 I>T No ClinGen
Ensembl
CA390112528
rs1566787747
201 N>D No ClinGen
Ensembl
rs1566787741
CA390112523
201 N>K No ClinGen
Ensembl
rs1412265660
CA390112525
201 N>S No ClinGen
TOPMed
CA390112517
rs1555373499
202 I>T No ClinGen
Ensembl
CA390112506
rs1309201247
204 N>D No ClinGen
TOPMed
rs765012400
CA7218604
204 N>K No ClinGen
ExAC
gnomAD
rs761507652
CA7218603
205 E>K No ClinGen
ExAC
rs1426929235
CA390112492
206 E>K No ClinGen
gnomAD
TCGA novel 208 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776617300
CA7218602
210 V>D No ClinGen
ExAC
gnomAD
rs1393811235
CA390112453
212 T>A No ClinGen
TOPMed
rs768567956
CA7218601
215 S>P No ClinGen
ExAC
gnomAD
CA262476349
rs147383587
216 I>S No ClinGen
ESP
rs138997693
CA7218600
216 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374715164
CA7218599
220 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7218598
rs771981347
222 I>V No ClinGen
ExAC
gnomAD
CA390112370
rs1261584321
224 W>C No ClinGen
TOPMed
gnomAD
rs1595012320
CA390112366
225 S>A No ClinGen
Ensembl
CA7218597
rs745968925
225 S>C No ClinGen
ExAC
gnomAD
rs1373979816
CA390112358
226 G>V No ClinGen
gnomAD
rs1595012310
CA390112356
227 K>E No ClinGen
Ensembl
rs1343999819
CA390112346
228 G>D No ClinGen
TOPMed
CA390112334
rs1205559013
229 Y>* No ClinGen
TOPMed
CA7218595
rs551757796
232 I>F No ClinGen
1000Genomes
ExAC
gnomAD
CA7218593
rs531940599
232 I>M No ClinGen
1000Genomes
ExAC
gnomAD
CA7218592
rs756454182
235 M>L No ClinGen
ExAC
gnomAD
CA390112296
rs756454182
235 M>V No ClinGen
ExAC
gnomAD
rs753044102
CA262476348
236 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs767911526
CA7218590
236 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA390112287
rs767911526
236 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs753044102
CA7218591
236 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA7218589
rs750610048
237 H>D No ClinGen
ExAC
CA390112274
rs1258332498
238 D>G No ClinGen
TOPMed
CA390112234
rs984476162
243 W>* No ClinGen
gnomAD
rs984476162
CA262476346
243 W>C No ClinGen
gnomAD
CA7218587
rs764816447
248 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1156424807
CA390112199
248 H>Y No ClinGen
gnomAD
CA390112188
rs1189023699
250 D>H No ClinGen
gnomAD
rs1241855476
CA390112154
254 P>L No ClinGen
gnomAD
rs776410645
CA7218585
255 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7218583
rs760393455
257 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs775316974
CA7218582
257 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs775316974
CA390112139
257 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs202102295
CA262476344
263 V>I No ClinGen
gnomAD
rs1380429407
CA390112088
265 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs770997597
CA7218578
268 N>D No ClinGen
ExAC
gnomAD
rs140383002
CA7218577
269 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147523002
CA262476343
275 D>N No ClinGen
ESP
TOPMed
CA7218576
rs777981551
276 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs200689505
CA262476342
276 Y>N No ClinGen
gnomAD
TCGA novel 278 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390111993
rs1566787566
278 I>T No ClinGen
Ensembl
rs143165130
CA7218575
279 G>D No ClinGen
ESP
ExAC
gnomAD
CA390111989
rs1277647565
279 G>S No ClinGen
TOPMed
CA7218574
rs748490107
280 G>D No ClinGen
ExAC
gnomAD
CA7218573
rs781569591
281 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs752074989
CA7218571
282 Y>H No ClinGen
ExAC
TCGA novel 283 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1212119686
CA390111940
286 T>R No ClinGen
TOPMed
rs778623681
CA7218570
287 D>E No ClinGen
ExAC
gnomAD
CA390111930
rs1384109763
288 T>A No ClinGen
gnomAD
rs1450705425
CA390111922
289 L>S No ClinGen
gnomAD
rs1244193578
CA390111915
290 H>P No ClinGen
gnomAD
CA7218568
rs753332841
291 V>I No ClinGen
ExAC
gnomAD
rs763872055
CA7218567
292 I>T No ClinGen
ExAC
gnomAD
rs1566787525
CA390111899
293 G>R No ClinGen
Ensembl
CA390111889
rs1290890640
294 G>A No ClinGen
TOPMed
gnomAD
CA390111886
rs1224765834
295 T>A No ClinGen
gnomAD
CA390111873
rs1357333903
297 K>Q No ClinGen
gnomAD
rs148379805
CA7218565
298 G>R No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 299 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs541626796
CA7218561
307 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1429793227
CA390111780
309 G>E No ClinGen
gnomAD
CA7218560
rs143334972
312 H>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7218559
rs774253682
312 H>Q No ClinGen
ExAC
gnomAD
CA390111761
rs1422410741
313 V>L No ClinGen
gnomAD
CA390111748
rs1358038416
315 S>G No ClinGen
gnomAD
COSM553518
rs1263101419
CA390111743
315 S>R lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs950244789
CA262476341
318 G>R No ClinGen
TOPMed
CA7218557
rs367918227
319 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390111722
rs1422291845
319 G>R No ClinGen
gnomAD
CA390111705
rs141157376
321 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7218556
rs141157376
321 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1595011915
CA390111699
322 A>V No ClinGen
Ensembl
rs1201830923
CA390111698
323 T>A No ClinGen
gnomAD
CA262476339
rs889868982
323 T>I No ClinGen
TOPMed
CA7218555
rs769929699
COSM1740090
325 R>C haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA7218554
rs188415224
325 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390111678
rs1390468504
326 S>F No ClinGen
TOPMed
TCGA novel 327 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1595011887
CA390111665
328 C>Y No ClinGen
Ensembl
TCGA novel 330 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7218553
rs200346449
331 V>M No ClinGen
1000Genomes
ExAC
gnomAD
CA390111636
rs1430993797
332 Q>R No ClinGen
TOPMed
CA7218550
rs780712409
337 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs758936068
CA7218549
339 G>R No ClinGen
ExAC
TOPMed
rs1444279086 340 G>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390111585
rs1345421570
340 G>R No ClinGen
gnomAD
CA7218547
rs777402670
343 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA390111455
rs1566787402
350 P>S No ClinGen
Ensembl
CA390111424
rs1356749798
353 I>L No ClinGen
TOPMed
gnomAD
TCGA novel 353 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390111421
rs1356749798
353 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs571324018
CA7218543
354 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA7218542
rs759385278
355 K>E No ClinGen
ExAC
gnomAD
TCGA novel 355 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390111360
rs1179036021
358 T>A No ClinGen
gnomAD
rs201297563
CA262476336
358 T>R No ClinGen
1000Genomes
CA262476335
rs202032576
359 K>R No ClinGen
1000Genomes
CA390111341
rs1566787378
360 K>E No ClinGen
Ensembl
rs1566787367 360 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1566787366
COSM168068
TCGA novel
CA390111317
361 E>D Variant assessed as Somatic; impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA
ClinGen
cosmic curated
Ensembl
CA390111329
rs1388874515
361 E>K No ClinGen
gnomAD
rs1479546173
CA390111312
362 S>C No ClinGen
gnomAD
rs1216745206
CA390111308
362 S>N No ClinGen
TOPMed
rs369959005
CA262476333
363 M>K No ClinGen
ESP
ExAC
gnomAD
CA7218539
rs369959005
363 M>T No ClinGen
ESP
ExAC
gnomAD
CA390111263
rs1454408190
365 I>V No ClinGen
TOPMed
gnomAD
CA390111247
rs1193237153
366 A>S No ClinGen
TOPMed
rs762826018
CA7218538
366 A>V No ClinGen
ExAC
gnomAD
CA7218536
rs769884640
368 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA7218537
rs769884640
368 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs138166073
CA7218535
369 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390111203
rs1439462814
370 H>L No ClinGen
gnomAD
CA390111193
rs371589367
371 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA262476332
rs545435704
372 R>* No ClinGen
gnomAD
CA7218533
rs368654685
372 R>Q No ClinGen
ESP
ExAC
TOPMed
CA390111184
rs1595011629
373 V>A No ClinGen
Ensembl
rs775949617
CA7218531
374 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs576477902
CA7218530
374 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390111161
rs1264870883
376 H>Q No ClinGen
gnomAD
rs777219589
CA7218528
376 H>R No ClinGen
ExAC
gnomAD
CA7218529
rs746348481
376 H>Y No ClinGen
ExAC
gnomAD
rs1297161822
CA390111156
377 S>G No ClinGen
TOPMed
gnomAD
CA7218527
rs755640808
377 S>N No ClinGen
ExAC
gnomAD
rs140633404
CA7218526
378 N>S No ClinGen
ESP
ExAC
rs780897713
CA390111092
381 Y>* No ClinGen
ExAC
gnomAD
rs1339050283
CA390111068
383 R>K No ClinGen
gnomAD
TCGA novel 383 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390111056
rs1468598295
384 R>K No ClinGen
gnomAD
rs1595011561
CA390110993
388 Q>W No ClinGen
Ensembl

No associated diseases with Q96FK6

No regional properties for Q96FK6

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q96FK6

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

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P53962 YNL035C Uncharacterized WD repeat-containing protein YNL035C Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q3ZBK1 WDR89 WD repeat-containing protein 89 Bos taurus (Bovine) PR
Q9D0R9 Wdr89 WD repeat-containing protein 89 Mus musculus (Mouse) PR
10 20 30 40 50 60
MEKIEEQFAN LHIVKCSLGT KEPTYLLGID TSKTVQAGKE NLVAVLCSNG SIRIYDKERL
70 80 90 100 110 120
NVLREFSGYP GLLNGVRFAN SCDSVYSACT DGTVKCWDAR VAREKPVQLF KGYPSNIFIS
130 140 150 160 170 180
FDINCNDHII CAGTEKVDDD ALLVFWDARM NSQNLSTTKD SLGAYSETHS DDVTQVRFHP
190 200 210 220 230 240
SNPNMVVSGS SDGLVNVFDI NIDNEEDALV TTCNSISSVS CIGWSGKGYK QIYCMTHDEG
250 260 270 280 290 300
FYWWDLNHLD TDEPVTRLNI QDVREVVNMK EDALDYLIGG LYHEKTDTLH VIGGTNKGRI
310 320 330 340 350 360
HLMNCSMSGL THVTSLQGGH AATVRSFCWN VQDDSLLTGG EDAQLLLWKP GAIEKTFTKK
370 380
ESMKIASSVH QRVRVHSNDS YKRRKKQ