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 Q9HCE1

Entry ID Method Resolution Chain Position Source
AF-Q9HCE1-F1 Predicted AlphaFoldDB

671 variants for Q9HCE1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1674524213
RCV001270187
944 Y>C Premature ovarian failure [ClinVar] Yes ClinVar
dbSNP
TCGA novel 3 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1009403
rs201021656
8 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1009404
rs201021656
8 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1261144526
CA341657925
8 R>W No ClinGen
gnomAD
CA1009405
COSM527358
rs757439589
11 R>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA28932175
rs921435174
11 R>W No ClinGen
Ensembl
CA1009407
rs750261841
12 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA341657962
rs1399003142
12 E>K No ClinGen
TOPMed
CA341658011
rs1430194817
16 C>Y No ClinGen
gnomAD
CA341658037
rs1476462227
18 E>G No ClinGen
TOPMed
CA1009409
rs4436392
18 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA341658063
rs1402382909
20 F>L No ClinGen
gnomAD
rs749178705
CA1009410
24 R>Q No ClinGen
ExAC
gnomAD
CA341658139
rs1339040561
25 G>E No ClinGen
gnomAD
rs1356051346
CA341658172
27 D>G No ClinGen
gnomAD
CA1009412
rs778301654
28 M>V No ClinGen
ExAC
rs747646761
CA1009413
32 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA341658250
rs1487424564
33 E>K No ClinGen
TOPMed
CA341658269
rs1348865725
34 R>W No ClinGen
TOPMed
gnomAD
rs771890048
CA1009414
36 R>W No ClinGen
ExAC
gnomAD
rs1253949409
CA341658303
37 T>I No ClinGen
gnomAD
CA341658335
rs1570738607
40 N>T No ClinGen
Ensembl
CA1009415
rs772974608
41 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1178960804
CA341658360
42 D>N No ClinGen
gnomAD
TCGA novel 44 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1381949786
CA341658405
44 K>R No ClinGen
gnomAD
TCGA novel 46 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1432145788
CA341659922
48 G>E No ClinGen
gnomAD
CA1009434
rs535795554
49 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1570777436
CA341659925
49 T>P No ClinGen
Ensembl
CA1009436
rs561408204
51 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1323344238
CA341659943
52 P>S No ClinGen
gnomAD
CA341659976
rs1391988109
57 M>K No ClinGen
gnomAD
rs749621392
CA1009437
57 M>L No ClinGen
ExAC
gnomAD
CA1009438
rs769086801
59 Y>C No ClinGen
ExAC
CA1009440
rs761943431
63 I>M No ClinGen
ExAC
gnomAD
rs774901640
CA1009439
63 I>T No ClinGen
ExAC
gnomAD
CA341660017
rs1449778327
63 I>V No ClinGen
gnomAD
CA341660028
rs1218095632
65 N>D No ClinGen
gnomAD
CA341660031
rs1260418243
65 N>S No ClinGen
TOPMed
gnomAD
rs1557758951
CA341660044
67 A>G No ClinGen
Ensembl
CA1009441
rs142716470
68 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760900913
CA1009444
69 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs760900913
CA1009443
69 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1425963286
CA341660087
71 K>R No ClinGen
gnomAD
rs530067492
CA1009446
73 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1009445
rs753608129
73 R>W No ClinGen
ExAC
gnomAD
rs898051637
CA28940601
74 V>F No ClinGen
gnomAD
rs898051637
CA341660110
74 V>I No ClinGen
gnomAD
rs1249458430
CA341660122
75 R>K No ClinGen
TOPMed
CA341660128
rs1300039529
75 R>S No ClinGen
gnomAD
rs1343577793
CA341660138
76 F>Y No ClinGen
gnomAD
rs765144227
CA341660173
79 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs752675873
CA1009448
79 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA1009447
rs765144227
79 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA1009450
rs777431510
80 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs142209700
CA1009451
81 R>C No ClinGen
ESP
ExAC
gnomAD
CA341660202
rs1353895265
81 R>H No ClinGen
TOPMed
gnomAD
rs756998623
CA1009452
83 A>V No ClinGen
ExAC
gnomAD
CA1009456
COSM674304
rs769053734
84 D>E lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs370478051
CA1009454
84 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA341660235
rs1215671055
84 D>V No ClinGen
gnomAD
CA1009457
rs748662950
85 V>M No ClinGen
ExAC
gnomAD
rs772510801
CA1009458
86 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1295849842
CA341660243
86 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA341660256
rs1223287112
88 P>S No ClinGen
gnomAD
CA1009460
rs200320463
90 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA1009461
rs760706906
93 M>I No ClinGen
ExAC
gnomAD
CA1009462
rs771106179
95 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA341660308
rs771106179
95 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs965415458
CA341660312
96 G>E No ClinGen
TOPMed
gnomAD
rs965415458
CA28940719
96 G>V No ClinGen
TOPMed
gnomAD
CA1009463
rs370943143
99 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759316287
CA1009464
100 S>G No ClinGen
ExAC
gnomAD
CA341660347
rs1437210400
101 K>N No ClinGen
TOPMed
rs1377443369
CA341660359
103 H>Y No ClinGen
gnomAD
CA1009468
rs763001472
108 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1277456835
CA341660394
108 A>V No ClinGen
gnomAD
CA1009469
rs764080471
109 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1272791331
CA341660399
109 K>R No ClinGen
TOPMed
CA341660402
rs1331310640
110 I>L No ClinGen
TOPMed
rs112819798
CA28940767
112 Y>C No ClinGen
Ensembl
CA341660431
rs1211287542
113 D>E No ClinGen
gnomAD
CA341660432
rs1280139404
114 R>G No ClinGen
gnomAD
TCGA novel 114 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1009491
rs762808148
119 H>R No ClinGen
ExAC
gnomAD
CA341661101
rs1485599954
120 G>A No ClinGen
TOPMed
CA1009492
rs764172622
121 K>E No ClinGen
ExAC
gnomAD
CA341661128
rs1557759789
122 H>D No ClinGen
Ensembl
CA341661140
rs1395587995
123 G>S No ClinGen
gnomAD
rs1343304614
CA341661161
125 D>N No ClinGen
TOPMed
rs576181686
CA1009494
126 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1213596168
CA341661211
129 Q>R No ClinGen
TOPMed
CA341661275
rs1403751867
134 A>V No ClinGen
gnomAD
rs147811471
CA1009496
135 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755814593
CA1009497
136 D>G No ClinGen
ExAC
gnomAD
rs1341606707
CA341661288
136 D>N No ClinGen
TOPMed
gnomAD
CA1009499
rs376126674
140 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341661339
rs1381738704
140 L>R No ClinGen
gnomAD
rs376126674
CA1009498
140 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150316337
CA28944065
141 I>T No ClinGen
ESP
TOPMed
rs758746811
CA1009500
142 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1009502
rs116655742
142 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1009501
rs116655742
142 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1489928734
CA341661374
144 D>G No ClinGen
gnomAD
rs771284179
CA1009503
144 D>H No ClinGen
ExAC
gnomAD
CA1009504
rs781350691
145 L>V No ClinGen
ExAC
gnomAD
rs149029432
CA1009505
147 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770092703
CA1009506
147 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA341661404
rs1191010617
149 E>K No ClinGen
gnomAD
rs1229285420
CA341661413
150 V>L No ClinGen
gnomAD
rs749155784
CA1009508
151 L>P No ClinGen
ExAC
gnomAD
CA1009510
rs768570170
152 T>A No ClinGen
ExAC
rs984338977
CA28944116
152 T>N No ClinGen
TOPMed
rs1557760037
CA341661433
154 R>K No ClinGen
Ensembl
CA341661436
rs1255574071
154 R>S No ClinGen
TOPMed
rs761827588
CA1009512
156 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 156 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341661459
rs1423610309
158 G>D No ClinGen
TOPMed
gnomAD
CA1009514
rs368056345
159 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341661498
rs1202889083
164 T>I No ClinGen
TOPMed
CA28944157
rs916698901
165 L>V No ClinGen
TOPMed
gnomAD
CA1009515
rs760074539
168 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1009518
rs754556608
169 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA1009517
rs753482453
169 F>L No ClinGen
ExAC
gnomAD
rs1290953232
CA341661530
170 P>A No ClinGen
TOPMed
CA341661537
rs1357473822
171 L>F No ClinGen
gnomAD
rs1286812272
CA341661546
172 C>F No ClinGen
gnomAD
CA341661542
rs1245608525
172 C>R No ClinGen
gnomAD
CA1009520
rs574586722
173 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1009519
rs764455810
173 R>W No ClinGen
ExAC
gnomAD
rs370341687
CA1009523
174 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1009522
rs370341687
174 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146126921
CA1009524
175 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1326816490
CA341661563
176 Q>* No ClinGen
TOPMed
CA1009527
rs768945998
177 F>L No ClinGen
ExAC
gnomAD
rs749529517
CA1009526
177 F>L No ClinGen
ExAC
gnomAD
CA1009529
rs373787928
179 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1009531
rs773003438
180 Y>C No ClinGen
ExAC
gnomAD
CA1009533
rs765876798
181 N>K No ClinGen
ExAC
gnomAD
CA1009532
rs760298300
181 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA1009534
rs371779632
185 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341661632
rs1318988871
186 L>M No ClinGen
gnomAD
TCGA novel 188 C>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1009535
rs759208673
191 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA341661671
rs1570780638
192 P>S No ClinGen
Ensembl
CA341661675
rs757536290
193 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA1009538
rs757536290
193 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs199744267
CA1009559
196 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA28944535
rs768468337
199 H>L No ClinGen
TOPMed
gnomAD
rs768468337
CA341661734
199 H>R No ClinGen
TOPMed
gnomAD
CA341661737
rs1481156620
200 V>I No ClinGen
gnomAD
rs766957320
CA1009560
201 H>N No ClinGen
ExAC
CA1009561
rs376355139
204 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1486580181
CA341661798
208 G>V No ClinGen
TOPMed
rs1480404698
CA341661802
209 Y>C No ClinGen
gnomAD
CA341661804
rs1480404698
209 Y>S No ClinGen
gnomAD
CA341661810
rs1570781420
210 F>S No ClinGen
Ensembl
rs1258143023
CA341661817
211 P>S No ClinGen
TOPMed
rs1171485346
CA341661832
213 T>I No ClinGen
gnomAD
CA28944555
rs549838098
214 V>G No ClinGen
1000Genomes
rs1570781488
CA341661887
222 G>A No ClinGen
Ensembl
rs369273991
CA28944570
224 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1009562
rs369273991
224 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1297858657
CA341661913
227 E>K No ClinGen
gnomAD
TCGA novel 229 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1009566
rs200470042
230 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA341661949
rs1281467008
232 F>C No ClinGen
gnomAD
CA341661946
rs1356253726
232 F>V No ClinGen
TOPMed
rs116379281
CA28944597
233 Y>H No ClinGen
1000Genomes
rs770891090
CA341661959
234 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA1009568
rs770891090
234 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs141479017
CA1009569
235 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1009570
rs201458678
236 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1009571
rs769180599
236 R>H No ClinGen
ExAC
gnomAD
rs775001346
CA1009572
240 A>G No ClinGen
ExAC
gnomAD
rs139270756
CA1009574
241 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341662007
rs1490325825
242 A>T No ClinGen
TOPMed
gnomAD
CA1009577
rs767043168
243 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA1009576
rs761090506
243 H>Y No ClinGen
ExAC
rs867436323
CA341662026
245 P>H No ClinGen
gnomAD
rs867436323
CA28944659
245 P>L No ClinGen
gnomAD
CA28944658
rs369968810
245 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369968810
CA1009579
245 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341662028
rs1426788929
246 L>M No ClinGen
gnomAD
CA1009580
rs765244376
248 A>S No ClinGen
ExAC
gnomAD
rs1365104438
CA341662044
249 Q>K No ClinGen
gnomAD
CA341662069
rs1196182464
252 P>L No ClinGen
TOPMed
CA1009583
rs764346509
253 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs752772081
CA1009582
253 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA341662072
rs764346509
253 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs752772081
CA1009581
253 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA28944678
rs1030672648
254 T>N No ClinGen
TOPMed
rs751400244
CA1009584
255 P>H No ClinGen
ExAC
gnomAD
CA1009588
rs147230995
258 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147230995
CA341662104
258 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147230995
CA1009587
258 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1009586
rs571867196
258 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1009594
rs768238276
260 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1009593
rs748795486
260 R>W No ClinGen
ExAC
TOPMed
rs747439667
CA1009596
COSM3399540
263 G>R central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1009597
rs771420158
265 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1446661219
CA341662167
269 N>S No ClinGen
TOPMed
gnomAD
CA28944770
rs963236566
270 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA1009599
rs759980674
270 R>W No ClinGen
ExAC
gnomAD
CA341662203
rs1343306092
275 E>* No ClinGen
gnomAD
rs185161677
CA28944773
277 P>L No ClinGen
1000Genomes
CA1009600
rs765732006
279 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1009601
rs775468592
279 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374084556
CA1009629
280 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375968506
CA1009630
281 K>E No ClinGen
ESP
ExAC
gnomAD
CA341662259
rs1175435250
282 G>S No ClinGen
gnomAD
rs752212749
CA1009632
283 Y>N No ClinGen
ExAC
TOPMed
gnomAD
rs370221833
CA1009633
284 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1009634
rs777541279
286 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA341662307
rs1304447929
289 M>V No ClinGen
TOPMed
gnomAD
CA1009637
rs369709845
290 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs369709845
CA1009636
290 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs764361211
CA1009638
290 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1436318193
CA341662327
COSM3360226
292 G>A kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1216720819
CA341662324
292 G>R No ClinGen
gnomAD
CA341662338
rs1271088668
294 Y>C No ClinGen
gnomAD
CA341662346
rs1223231397
295 Y>S No ClinGen
gnomAD
rs760457102
CA1009644
298 P>H No ClinGen
ExAC
gnomAD
rs760457102
CA341662366
298 P>R No ClinGen
ExAC
gnomAD
CA1009643
rs773474689
298 P>S No ClinGen
ExAC
rs148870988
CA1009645
299 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1009646
rs148870988
299 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA28946366
COSM893964
rs150955367
299 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
rs1165964889
CA341662372
300 L>F No ClinGen
TOPMed
gnomAD
CA1009648
rs765231445
304 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1436613760
CA341662406
305 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 306 M>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 309 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201604439
CA1009651
309 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341662439
rs1368720989
310 G>A No ClinGen
gnomAD
rs1488078212
CA341662445
311 T>K No ClinGen
TOPMed
rs751228760
CA1009652
312 S>G No ClinGen
ExAC
gnomAD
TCGA novel 317 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 317 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341662502
rs1247062117
319 E>D No ClinGen
gnomAD
CA1009659
rs372753999
320 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA341662504
rs1294010518
320 I>V No ClinGen
gnomAD
CA1009660
rs773101901
321 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA1009661
rs773101901
321 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA1009662
rs144607229
322 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776526998
CA1009663
322 E>D No ClinGen
ExAC
gnomAD
rs1470481130
CA341662551
326 Q>* No ClinGen
gnomAD
TCGA novel 328 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341662592
rs1339122907
332 K>T No ClinGen
gnomAD
CA1009683
rs377289045
334 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1238283513
CA341662615
335 N>T No ClinGen
TOPMed
CA28947503
rs4448516
341 R>P No ClinGen
ExAC
TOPMed
gnomAD
COSM1332763
CA1009685
rs4448516
341 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1009686
rs769716115
347 E>G No ClinGen
ExAC
gnomAD
CA341662723
rs1397205741
352 E>K No ClinGen
Ensembl
rs1261096027
CA341662732
353 H>D No ClinGen
gnomAD
rs373947278
CA1009688
353 H>R No ClinGen
ESP
ExAC
gnomAD
CA341662755
rs989775366
356 R>P No ClinGen
gnomAD
rs989775366
CA28947551
356 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1009689
rs763896855
357 H>Q No ClinGen
ExAC
gnomAD
rs1416746822
CA341662761
357 H>R No ClinGen
gnomAD
TCGA novel 358 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341662787
rs1557764359
361 E>A No ClinGen
Ensembl
CA341662791
rs1411801604
361 E>D No ClinGen
gnomAD
rs773954803
CA1009690
361 E>K No ClinGen
ExAC
CA1009691
rs199993555
362 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750072129
CA1009693
363 V>M No ClinGen
ExAC
gnomAD
CA28947577
rs912378086
365 M>V No ClinGen
Ensembl
CA28947595
rs942568758
367 W>S No ClinGen
Ensembl
rs753013674
CA1009696
369 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA341662843
rs1389684474
370 V>M No ClinGen
TOPMed
gnomAD
TCGA novel 376 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA28947634
rs781254645
378 T>M No ClinGen
Ensembl
rs1227922208
CA341662907
380 E>K No ClinGen
TOPMed
gnomAD
TCGA novel 382 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341663086
rs1557765803
382 P>S No ClinGen
Ensembl
rs943775212
CA28948897
383 G>A No ClinGen
Ensembl
CA341663117
rs1331368928
387 S>C No ClinGen
TOPMed
gnomAD
CA341663125
rs1426571447
388 R>C Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs558568709
CA1009725
388 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772001776
CA341663150
391 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs772001776
CA1009726
391 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA28948929
rs114362309
393 R>Q No ClinGen
1000Genomes
rs772742073
CA1009727
393 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA341663261
rs1188458982
400 L>R No ClinGen
TOPMed
rs776259482
CA1009730
402 S>T No ClinGen
ExAC
gnomAD
rs1056198529
CA28948956
403 S>L No ClinGen
TOPMed
rs1570796041
CA341663332
406 H>Y No ClinGen
Ensembl
rs554628721
CA1009734
408 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs768104788
CA1009735
410 P>L No ClinGen
ExAC
gnomAD
CA1009736
rs750581385
412 T>I No ClinGen
ExAC
gnomAD
rs1446673879
CA341663450
419 K>M No ClinGen
gnomAD
rs1446673879
CA341663449
419 K>R No ClinGen
gnomAD
CA1009739
rs143888387
424 R>C No ClinGen
ESP
ExAC
gnomAD
CA1009740
rs755174132
424 R>H No ClinGen
ExAC
gnomAD
CA1009742
rs747937140
432 S>C No ClinGen
ExAC
gnomAD
TCGA novel 434 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1009767
rs775195870
436 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs775195870
CA341663575
436 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs748592404
CA1009768
436 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773653752
CA1009770
438 V>M No ClinGen
ExAC
gnomAD
rs1278124080
CA341663606
441 L>V No ClinGen
gnomAD
rs776616491
CA1009773
444 K>R No ClinGen
ExAC
gnomAD
CA341663644
rs1249783824
446 N>K No ClinGen
TOPMed
gnomAD
TCGA novel 446 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1570797455
CA341663655
448 T>P No ClinGen
Ensembl
rs1482674228
CA341663672
450 N>T No ClinGen
gnomAD
CA28949438
rs1026861232
451 R>C No ClinGen
TOPMed
gnomAD
rs566667009
CA1009775
451 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs566667009
CA1009774
451 R>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1271000315
CA341663691
453 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA1009777
rs758553612
455 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA1009778
COSM2119950
rs763895465
455 R>Q oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 458 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751314294
CA1009779
459 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA341663736
rs1369456396
461 L>P No ClinGen
gnomAD
CA341663734
rs747964776
461 L>V No ClinGen
TOPMed
TCGA novel 464 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1304244406
CA341663761
465 G>A No ClinGen
gnomAD
CA1009783
COSM3688889
rs755646925
466 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA28949550
COSM1600561
rs144977139
466 R>H liver [Cosmic] No ClinGen
cosmic curated
ESP
TOPMed
gnomAD
CA341663775
rs1316264399
467 W>C No ClinGen
TOPMed
rs778316862
CA1009787
470 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA341663788
rs1570797816
470 W>G No ClinGen
Ensembl
CA1009788
CA341663806
rs747349653
472 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA28949570
rs950050968
472 M>V No ClinGen
TOPMed
rs771394471
CA1009789
473 L>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 477 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1009791
rs200051144
478 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1557766727
CA341663840
478 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA1009793
rs373206941
479 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769927111
CA1009792
479 R>W No ClinGen
ExAC
gnomAD
CA341663855
rs112768939
481 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs112768939
CA1009795
481 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA28949596
rs112768939
481 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1009796
rs751402225
482 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA28949598
rs751402225
482 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA341663876
rs1198168739
485 P>S No ClinGen
TOPMed
rs890897754
CA28949619
486 S>* No ClinGen
TOPMed
CA341663897
rs1164950465
487 D>Y No ClinGen
gnomAD
rs1404166050
CA341663913
488 V>M No ClinGen
gnomAD
CA341663929
rs1205189326
489 K>R No ClinGen
TOPMed
CA341664030
rs1557767021
494 D>N No ClinGen
Ensembl
CA341664047
rs775586121
495 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs775586121
CA1009814
495 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1009813
rs770157691
495 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1461482495
CA341664088
498 E>D No ClinGen
gnomAD
CA341664084
rs1267346869
498 E>G No ClinGen
gnomAD
rs768924193
CA1009816
500 N>S No ClinGen
ExAC
gnomAD
rs761874986
CA1009818
501 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs761874986
CA28949866
501 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs774551277
CA1009817
501 P>S No ClinGen
ExAC
gnomAD
CA28949876
rs971504487
502 E>Q No ClinGen
TOPMed
CA341664174
rs1570798819
505 Q>* No ClinGen
Ensembl
rs767358480
CA1009819
505 Q>P No ClinGen
ExAC
gnomAD
rs750138719
CA1009820
508 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs760699545
CA1009821
511 V>I No ClinGen
ExAC
gnomAD
rs377381143
CA1009823
512 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341664236
rs1570798927
514 T>P No ClinGen
Ensembl
CA1009825
rs778778772
515 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs777118633
CA28949968
516 R>C No ClinGen
gnomAD
rs752407299
CA1009826
516 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs757934734
CA1009827
518 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1428720517
CA341664275
521 I>V No ClinGen
TOPMed
CA1009829
rs746184267
523 F>I No ClinGen
ExAC
gnomAD
CA341664325
rs1253418058
529 G>R No ClinGen
gnomAD
CA1009831
rs780523864
533 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA341664355
rs780523864
533 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA341664972
rs764967134
550 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA1009849
rs749810313
550 I>V No ClinGen
ExAC
gnomAD
CA1009852
rs748146686
554 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1557767846
CA341665010
556 S>F No ClinGen
Ensembl
rs1459432795
CA341665018
557 N>K No ClinGen
gnomAD
rs1416814751
CA341665016
557 N>S No ClinGen
gnomAD
rs772390323
CA1009854
559 G>A No ClinGen
ExAC
gnomAD
rs370148422
CA28950571
562 L>I No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 565 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773296247
CA341665076
566 R>S No ClinGen
ExAC
gnomAD
rs372683047
CA1009858
568 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1009856
rs140221891
568 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1570800883
CA341665094
570 H>P No ClinGen
Ensembl
rs765233250
CA1009860
570 H>Q No ClinGen
ExAC
gnomAD
CA28950615
rs374544225
570 H>Y No ClinGen
ESP
TOPMed
CA1009861
rs775111931
573 S>T No ClinGen
ExAC
gnomAD
CA1009862
rs199885350
575 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1488330238
CA341665133
576 Y>C No ClinGen
TOPMed
gnomAD
CA341665132
rs1488330238
576 Y>S No ClinGen
TOPMed
gnomAD
rs990746871
CA28950647
577 R>G No ClinGen
Ensembl
CA341665139
rs1209761297
577 R>H No ClinGen
gnomAD
rs763871620
CA1009863
578 L>V No ClinGen
ExAC
gnomAD
CA1009864
rs151323201
579 L>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1009865
rs756844277
580 A>D No ClinGen
ExAC
gnomAD
CA341665158
rs1162548955
581 P>S No ClinGen
gnomAD
rs1457523501
CA341665165
582 S>N No ClinGen
gnomAD
CA1009868
rs746494871
583 R>K No ClinGen
ExAC
gnomAD
rs946514563
CA28950696
586 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs188207425
CA1009869
586 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1226151941
CA341665196
587 M>V No ClinGen
gnomAD
TCGA novel 589 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1009871
rs758407447
592 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA341665262
rs1370678878
594 P>L No ClinGen
TOPMed
gnomAD
CA341665258
rs1276284842
594 P>S No ClinGen
TOPMed
CA341665269
rs1431137870
595 C>Y No ClinGen
gnomAD
rs1321440579
CA341665288
598 W>G No ClinGen
TOPMed
CA341665290
rs1321440579
598 W>R No ClinGen
TOPMed
rs1349189245
CA341665297
599 D>N No ClinGen
gnomAD
rs765842366
CA1009889
600 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1369985985
CA341665324
602 K>N No ClinGen
gnomAD
rs1217741280
CA341665329
603 G>A No ClinGen
gnomAD
rs753151960
CA1009890
603 G>W No ClinGen
ExAC
TOPMed
rs1279667342
CA341665332
604 E>Q No ClinGen
gnomAD
CA1009891
rs758886608
608 P>A No ClinGen
ExAC
gnomAD
CA1009892
rs777742440
608 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs371708913
CA1009897
609 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371708913
CA1009896
609 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1009899
rs144650909
612 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1465743811
CA341665387
612 K>T No ClinGen
TOPMed
CA1009901
rs773774889
615 E>Q No ClinGen
ExAC
gnomAD
CA1009902
rs375776210
617 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375776210
CA1009903
617 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341665420
rs1314337422
617 R>W No ClinGen
TOPMed
CA1009904
rs772850250
618 V>F No ClinGen
ExAC
gnomAD
CA341665423
rs772850250
618 V>I No ClinGen
ExAC
gnomAD
CA28951669
rs762633832
620 I>T No ClinGen
Ensembl
rs1272567923
CA341665446
621 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA341665453
rs1365810275
623 L>F No ClinGen
TOPMed
CA341665470
rs1409955805
625 T>N No ClinGen
gnomAD
rs765537865
CA1009907
626 A>V No ClinGen
ExAC
gnomAD
TCGA novel 627 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341665477
rs1434807450
627 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA341665484
rs1570803766
628 R>W No ClinGen
Ensembl
rs753636534
CA1009934
629 L>F No ClinGen
ExAC
gnomAD
CA1009937
rs748100975
634 F>L No ClinGen
ExAC
gnomAD
COSM230868
CA28951874
rs1016367515
635 P>S Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA341665549
rs758287272
636 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs758287272
CA1009938
636 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA341665557
rs1294336052
637 D>E No ClinGen
TOPMed
gnomAD
rs750149774
CA28951881
637 D>G No ClinGen
TOPMed
gnomAD
rs777300998
CA1009939
639 F>L No ClinGen
ExAC
gnomAD
CA1009940
rs376937553
642 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770544212
CA1009941
644 I>M No ClinGen
ExAC
gnomAD
CA341665607
rs1273300931
645 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1009944
rs769076201
650 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs774806375
CA341665650
651 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA1009945
rs774806375
651 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1353367054
CA341665666
653 P>T No ClinGen
TOPMed
CA341665675
rs1484957957
654 E>A No ClinGen
gnomAD
TCGA novel 654 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs942757989
CA28951940
655 S>N No ClinGen
TOPMed
gnomAD
rs762441456
CA1009946
659 I>V No ClinGen
ExAC
rs768106693
CA1009947
660 A>P No ClinGen
ExAC
gnomAD
rs560631173
CA28952078
661 G>A No ClinGen
gnomAD
rs560631173
COSM2153487
CA341665730
661 G>E Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA341665744
rs1332339307
663 M>I No ClinGen
TOPMed
CA28952093
rs916055620
664 E>G No ClinGen
Ensembl
CA341665784
rs1427809152
669 G>V No ClinGen
gnomAD
CA1009973
rs776528287
670 D>N No ClinGen
ExAC
gnomAD
rs1391127536
CA341665800
672 G>R No ClinGen
gnomAD
rs1388317621
CA341665809
673 G>E No ClinGen
gnomAD
CA341665814
rs1289970756
674 Q>* No ClinGen
TOPMed
CA1009974
rs759838405
676 V>L No ClinGen
ExAC
gnomAD
CA341665825
rs759838405
676 V>M No ClinGen
ExAC
gnomAD
rs1228488726
CA341665840
678 A>V No ClinGen
gnomAD
CA341665841
rs1299249120
679 G>R No ClinGen
gnomAD
CA1009975
rs765419570
680 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA1009976
rs370183923
681 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1009977
rs370183923
681 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766050330
CA341665860
682 R>L No ClinGen
ExAC
gnomAD
rs766050330
CA1009979
682 R>Q No ClinGen
ExAC
gnomAD
CA28952133
rs1044753712
682 R>W No ClinGen
TOPMed
gnomAD
rs1468261882
CA341665882
686 P>S No ClinGen
gnomAD
CA341665886
rs1185731342
687 V>M No ClinGen
gnomAD
CA1009980
rs757092829
689 R>H No ClinGen
ExAC
gnomAD
rs780784924
CA341665916
692 L>P No ClinGen
ExAC
gnomAD
rs780784924
CA1009981
692 L>Q No ClinGen
ExAC
gnomAD
CA341665915
rs1169594503
692 L>V No ClinGen
TOPMed
gnomAD
rs1293386264
CA341665932
695 K>Q No ClinGen
TOPMed
CA341665945
rs1460349341
696 H>L No ClinGen
TOPMed
rs1459188754
CA341665951
697 G>E No ClinGen
gnomAD
rs1323722039
CA341665971
700 Y>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA341665974
rs1393261338
701 S>P No ClinGen
gnomAD
rs375700340
CA341665980
702 L>V No ClinGen
ESP
TOPMed
gnomAD
rs1425746621
CA341665984
703 L>V No ClinGen
TOPMed
gnomAD
CA28952227
rs765934294
705 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs755635865
CA1009983
705 R>W No ClinGen
ExAC
gnomAD
CA28952230
rs936312971
707 L>F No ClinGen
gnomAD
CA341666006
rs936312971
707 L>V No ClinGen
gnomAD
rs373394269
CA1009986
708 T>I No ClinGen
ESP
ExAC
gnomAD
CA1009987
rs778199324
709 Y>S No ClinGen
ExAC
gnomAD
rs747373547
CA1009988
710 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1484899413
CA341666029
711 S>T No ClinGen
gnomAD
CA341666045
rs1256771628
713 Y>F No ClinGen
gnomAD
CA341666049
rs1425545378
714 K>E No ClinGen
gnomAD
rs771236863
CA1009989
714 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA341666070
rs1457601383
717 P>S No ClinGen
gnomAD
CA1009992
rs527541634
718 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA1009991
rs35168617
718 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 719 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1467082344
CA341666091
720 Y>C No ClinGen
TOPMed
rs1380518531
CA341666095
721 D>Y No ClinGen
gnomAD
rs763080177
CA341666107
722 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763080177
CA1009994
722 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1292009049
CA341666109
723 Q>* No ClinGen
gnomAD
CA341666114
rs1355164484
723 Q>H No ClinGen
gnomAD
rs1161918173
CA341666125
725 I>V No ClinGen
gnomAD
rs1270173919
CA341666136
726 T>I No ClinGen
gnomAD
CA341666151
rs774195962
729 L>F No ClinGen
ExAC
gnomAD
rs774195962
CA1009996
729 L>I No ClinGen
ExAC
gnomAD
CA1009997
rs761629290
COSM1257883
730 R>C oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1009998
rs143986452
730 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341666171
rs1453745854
732 Y>C No ClinGen
gnomAD
CA28955446
rs371391531
735 H>Y No ClinGen
ESP
CA341666206
rs1170098716
736 P>T No ClinGen
gnomAD
CA1010028
rs749536144
738 I>V No ClinGen
ExAC
gnomAD
CA28955468
rs955771576
741 I>V No ClinGen
Ensembl
CA341666258
rs1409683814
744 Q>* No ClinGen
gnomAD
rs149009106
COSM3747499
CA1010029
746 Y>C liver [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA28955473
rs987182217
746 Y>H No ClinGen
Ensembl
rs778863602
CA1010030
748 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs748325491
CA1010031
750 E>G No ClinGen
ExAC
gnomAD
rs773330410
CA1010033
753 A>G No ClinGen
ExAC
TOPMed
CA341666354
rs1338740130
758 V>A No ClinGen
gnomAD
rs776369976
CA1010036
758 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs973077603
CA28955522
759 D>G No ClinGen
Ensembl
rs1274865640
CA341666358
759 D>N No ClinGen
gnomAD
CA28955524
CA1010038
rs780063037
761 E>D No ClinGen
ExAC
gnomAD
CA341666375
rs1184419449
COSM893966
762 R>C Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1184419449
CA341666374
762 R>G No ClinGen
gnomAD
rs762575240
CA1010040
763 F>L No ClinGen
ExAC
gnomAD
CA1010042
rs767983345
765 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1010043
rs151095542
RCV000968448
765 R>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA1010041
rs767983345
765 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 767 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs115341385
CA1010044
767 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1010046
rs755150534
768 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA341666428
rs748152573
771 R>* No ClinGen
ExAC
gnomAD
rs748152573
CA1010048
771 R>G No ClinGen
ExAC
gnomAD
rs375102670
CA1010050
771 R>Q No ClinGen
ESP
ExAC
gnomAD
CA341666433
rs1368040478
772 Q>* No ClinGen
TOPMed
CA341666457
rs1421275242
773 G>A No ClinGen
gnomAD
CA1010082
rs777233250
776 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs766846743
CA1010081
776 I>V No ClinGen
ExAC
gnomAD
CA1010085
rs373470360
781 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764472760
CA28956073
782 M>K No ClinGen
ExAC
gnomAD
rs764472760
CA1010087
782 M>T No ClinGen
ExAC
gnomAD
rs751671796
CA341666532
785 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA1010088
rs751671796
785 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1254114452
CA341666549
787 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
COSM252617
rs576123899
CA28956078
787 R>H ovary [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA341666579
rs1331391234
791 S>N No ClinGen
gnomAD
TCGA novel 792 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341666613
rs1570811503
796 N>T No ClinGen
Ensembl
rs1300681968
CA341666619
797 P>A No ClinGen
TOPMed
gnomAD
TCGA novel 798 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341666641
rs1346317619
800 A>P No ClinGen
gnomAD
CA341666652
rs1570811554
802 T>P No ClinGen
Ensembl
CA341666663
rs1570811590
803 V>G No ClinGen
Ensembl
rs1252439557
CA341666658
803 V>L No ClinGen
gnomAD
rs1194451257
CA341666704
810 L>F No ClinGen
TOPMed
gnomAD
rs1570811632
CA341666711
811 L>P No ClinGen
Ensembl
CA341666715
rs1207608178
812 A>T No ClinGen
gnomAD
rs146641181
CA1010092
813 P>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1010093
rs146641181
813 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1570811693
CA341666724
814 S>P No ClinGen
Ensembl
CA28956132
rs774131643
817 K>E No ClinGen
Ensembl
rs749104311
CA341666748
817 K>N No ClinGen
ExAC
gnomAD
CA341666767
rs768283807
820 A>D No ClinGen
ExAC
gnomAD
CA1010095
rs768283807
820 A>G No ClinGen
ExAC
gnomAD
CA341666770
rs1374726085
821 R>C No ClinGen
TOPMed
gnomAD
rs747624544
CA1010097
821 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs771600297
CA1010098
823 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA341666793
rs1557772441
825 R>* No ClinGen
Ensembl
rs776951802
CA1010099
826 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA341666814
rs1454939512
828 G>D No ClinGen
TOPMed
gnomAD
CA1010101
rs376504097
829 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1010102
rs775913789
831 S>Y No ClinGen
ExAC
gnomAD
CA1010103
rs370420551
832 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1010106
rs757365243
834 R>Q No ClinGen
ExAC
gnomAD
CA1010105
rs751865425
834 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 836 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 839 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA28956547
rs867755838
841 R>C No ClinGen
TOPMed
gnomAD
CA341666906
rs867755838
841 R>G No ClinGen
TOPMed
gnomAD
rs116009972
COSM1169313
CA1010131
841 R>H haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1291872039
CA341666927
844 I>V No ClinGen
gnomAD
rs758061672
CA1010132
849 R>T No ClinGen
ExAC
gnomAD
CA341666982
rs1224497182
852 R>* No ClinGen
gnomAD
rs573626187
CA1010133
853 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA341666988
rs1185214748
853 G>R No ClinGen
TOPMed
rs1259242884
CA341667024
858 K>M No ClinGen
TOPMed
TCGA novel 859 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 861 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1557774105
CA341667084
865 V>A No ClinGen
Ensembl
CA1010160
rs367907892
865 V>L No ClinGen
ESP
ExAC
gnomAD
rs1557774126 867 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA341667109
rs1173071155
869 Q>K No ClinGen
gnomAD
rs1476171944
COSM201440
CA341667140
873 R>* large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA341667151
rs1352950580
874 S>R No ClinGen
TOPMed
gnomAD
CA1010162
rs772354886
875 V>I No ClinGen
ExAC
gnomAD
CA341667164
rs1192241680
877 L>I No ClinGen
TOPMed
CA1010163
rs773433668
878 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA28957784
rs371817602
881 V>M No ClinGen
ESP
TCGA novel 882 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1438807058
CA341667193
882 R>G No ClinGen
gnomAD
CA1010164
COSM3788437
rs747208248
882 R>Q Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1362643393
CA341667198
883 S>G No ClinGen
gnomAD
CA341667217
rs1210711063
885 Q>R No ClinGen
TOPMed
rs1216099915
CA341667226
886 S>I No ClinGen
gnomAD
rs770927906
CA1010165
888 V>L No ClinGen
ExAC
gnomAD
CA341667246
rs1311602015
889 Q>R No ClinGen
TOPMed
CA1010167
rs759666453
891 D>G No ClinGen
ExAC
gnomAD
rs114634769
CA341667255
891 D>H No ClinGen
1000Genomes
ExAC
gnomAD
rs114634769
CA1010166
891 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA341667265
rs1276208450
892 L>P No ClinGen
TOPMed
rs1277842211
CA341667321
900 K>N No ClinGen
TOPMed
rs1432645012
CA341667328
901 N>I No ClinGen
gnomAD
rs1270936545
CA341667329
901 N>K No ClinGen
gnomAD
CA341667337
rs763811223
903 K>E No ClinGen
ExAC
gnomAD
rs763811223
CA1010171
903 K>Q No ClinGen
ExAC
gnomAD
rs758823732
CA1010196
906 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA341667374
rs758823732
906 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA1010197
rs778398108
911 R>W No ClinGen
ExAC
TOPMed
TCGA novel 912 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341667453
rs1422765637
919 V>L No ClinGen
TOPMed
rs1422765637
CA341667451
919 V>M No ClinGen
TOPMed
rs1314535992
CA341667469
921 N>K No ClinGen
gnomAD
TCGA novel 921 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762760106
CA1010204
922 P>* No ClinGen
ExAC
rs768457349
CA1010206
923 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs761658937
CA1010208
929 P>S No ClinGen
ExAC
gnomAD
CA1010209
rs772012793
931 W>C No ClinGen
ExAC
gnomAD
rs377196406
CA1010236
934 F>L No ClinGen
ESP
ExAC
gnomAD
TCGA novel 938 C>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1371011348
CA341667621
942 G>R No ClinGen
gnomAD
TCGA novel 944 Y>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs996929478
CA28958418
945 T>I No ClinGen
gnomAD
CA1010240
rs766472100
949 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA1010241
rs754110947
951 A>T No ClinGen
ExAC
gnomAD
rs1232762459
CA341667686
952 K>Q No ClinGen
gnomAD
rs114753027
CA28958454
COSM3849207
952 K>T pancreas [Cosmic] No ClinGen
cosmic curated
1000Genomes
rs1488009013
CA341667717
957 Q>K No ClinGen
TOPMed
CA28958455
rs911986294
958 G>R No ClinGen
TOPMed
gnomAD
rs1257668068
CA341667758
963 Q>K No ClinGen
gnomAD
rs1195640235
CA341667807
970 P>S No ClinGen
TOPMed
gnomAD
rs748304296
CA1010244
971 S>T No ClinGen
ExAC
gnomAD
CA1010268
rs781038670
975 P>S No ClinGen
ExAC
gnomAD
rs970943093
CA28958655
976 H>P No ClinGen
Ensembl
rs1363067427
CA341667863
977 S>N No ClinGen
gnomAD
CA341667866
rs6679
977 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1010270
rs200652089
978 H>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 979 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1356309549
CA341667885
980 Y>D No ClinGen
gnomAD
rs748758956
CA1010272
981 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs775164567
CA1010271
981 L>V No ClinGen
ExAC
gnomAD
CA341667900
rs1321125272
982 P>L No ClinGen
TOPMed
gnomAD
CA1010274
rs759227126
983 Q>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 983 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1010275
rs761247181
984 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs201257888
CA1010278
COSM293835
985 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777040893
CA1010277
985 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA28958732
rs991613919
986 E>A No ClinGen
TOPMed
gnomAD
CA1010280
rs752995933
987 G>D No ClinGen
ExAC
gnomAD
rs1465267472
CA341667932
988 E>Q No ClinGen
TOPMed
CA1010281
rs763074995
989 G>E No ClinGen
ExAC
gnomAD
rs1418461720
CA341667948
990 G>V No ClinGen
TOPMed
gnomAD
rs1450636262
CA341667988
997 P>A No ClinGen
TOPMed
gnomAD
CA341668007
rs1392010820
999 W>* No ClinGen
gnomAD
CA341668016
rs1309311810
1000 R>S No ClinGen
gnomAD
rs781044244
CA1010285
1003 L>F No ClinGen
ExAC
gnomAD

No associated diseases with Q9HCE1

1 regional properties for Q9HCE1

Type Name Position InterPro Accession
domain Armadillo repeat-containing domain 307 - 527 IPR006911

Functions

Description
EC Number 3.6.4.13 Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization
  • Cytoplasm, P-body
  • Cytoplasm, Cytoplasmic ribonucleoprotein granule
  • Cytoplasm, Stress granule
  • Nucleus
  • Cytoplasm
  • Co-enriched in cytoplasmic foci with TUT4 (PubMed:30122351)
  • In developing neurons, localizes both in nucleus and cytoplasm, but in the adulthood it is only cytoplasmic (By similarity)
  • After infection, relocalizes to the DENV replication complex in perinuclear regions (PubMed:27974568)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
cytoplasmic ribonucleoprotein granule A ribonucleoprotein granule located in the cytoplasm.
cytoplasmic stress granule A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
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.
P granule A small cytoplasmic, non-membranous RNA/protein complex aggregate in the primordial germ cells of many higher eukaryotes.
P-body A focus in the cytoplasm where mRNAs may become inactivated by decapping or some other mechanism. Protein and RNA localized to these foci are involved in mRNA degradation, nonsense-mediated mRNA decay (NMD), translational repression, and RNA-mediated gene silencing.

4 GO annotations of molecular function

Name Definition
5'-3' RNA helicase activity Unwinding of an RNA helix in the 5' to 3' direction, driven by ATP hydrolysis.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
RNA binding Binding to an RNA molecule or a portion thereof.

8 GO annotations of biological process

Name Definition
3'-UTR-mediated mRNA destabilization An mRNA destabilization process in which one or more RNA-binding proteins associate with the 3'-untranslated region (UTR) of an mRNA.
defense response to virus Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
miRNA-mediated gene silencing A post-transcriptional gene silencing pathway in which regulatory microRNAs (miRNAs) elicit silencing of specific target genes. miRNAs are endogenous 21-24 nucleotide small RNAs processed from stem-loop RNA precursors (pre-miRNAs). Once incorporated into a RNA-induced silencing complex (RISC), miRNAs can downregulate gene expression by either of two posttranscriptional mechanisms: endonucleolytic cleavage of the RNA (often mRNA) or mRNA translational repression, usually accompanied by poly-A tail shortening and subsequent degradation of the mRNA. miRNAs are present in all the animals and in plants, whereas siRNAs are present in lower animals and in plants.
miRNA-mediated gene silencing by mRNA destabilization An RNA interference pathway in which microRNAs (miRNAs) direct the cleavage of target mRNAs. Once incorporated into a RNA-induced silencing complex (RISC), a miRNA base pairing with near-perfect complementarity to the target mRNA will typically direct targeted endonucleolytic cleavage of the mRNA. Many plant miRNAs downregulate gene expression through this mechanism.
negative regulation of transposition, RNA-mediated Any process that decreases the frequency, rate or extent of RNA-mediated transposition. RNA-mediated transposition is a type of transpositional recombination which occurs via an RNA intermediate.
positive regulation of mRNA catabolic process Any process that increases the rate, frequency, or extent of a mRNA catabolic process, the chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage.
post-transcriptional gene silencing by RNA A posttranscriptional gene silencing pathway in which regulatory RNAs elicit silencing of specific target genes, either by mRNA destabilization or inhibition of translation.
regulation of neuron projection arborization Any process that modulates the frequency, rate or extent of the process in which the anatomical structures of a neuron projection are generated and organized into branches.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5ZKD7 MOV10 Putative helicase MOV-10 Gallus gallus (Chicken) PR
O60306 AQR RNA helicase aquarius Homo sapiens (Human) PR
P23249 Mov10 Putative helicase MOV-10 Mus musculus (Mouse) PR
Q8GYD9 SDE3 Probable RNA helicase SDE3 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MPSKFSCRQL REAGQCFESF LVVRGLDMET DRERLRTIYN RDFKISFGTP APGFSSMLYG
70 80 90 100 110 120
MKIANLAYVT KTRVRFFRLD RWADVRFPEK RRMKLGSDIS KHHKSLLAKI FYDRAEYLHG
130 140 150 160 170 180
KHGVDVEVQG PHEARDGQLL IRLDLNRKEV LTLRLRNGGT QSVTLTHLFP LCRTPQFAFY
190 200 210 220 230 240
NEDQELPCPL GPGECYELHV HCKTSFVGYF PATVLWELLG PGESGSEGAG TFYIARFLAA
250 260 270 280 290 300
VAHSPLAAQL KPMTPFKRTR ITGNPVVTNR IEEGERPDRA KGYDLELSMA LGTYYPPPRL
310 320 330 340 350 360
RQLLPMLLQG TSIFTAPKEI AEIKAQLETA LKWRNYEVKL RLLLHLEELQ MEHDIRHYDL
370 380 390 400 410 420
ESVPMTWDPV DQNPRLLTLE VPGVTESRPS VLRGDHLFAL LSSETHQEDP ITYKGFVHKV
430 440 450 460 470 480
ELDRVKLSFS MSLLSRFVDG LTFKVNFTFN RQPLRVQHRA LELTGRWLLW PMLFPVAPRD
490 500 510 520 530 540
VPLLPSDVKL KLYDRSLESN PEQLQAMRHI VTGTTRPAPY IIFGPPGTGK TVTLVEAIKQ
550 560 570 580 590 600
VVKHLPKAHI LACAPSNSGA DLLCQRLRVH LPSSIYRLLA PSRDIRMVPE DIKPCCNWDA
610 620 630 640 650 660
KKGEYVFPAK KKLQEYRVLI TTLITAGRLV SAQFPIDHFT HIFIDEAGHC MEPESLVAIA
670 680 690 700 710 720
GLMEVKETGD PGGQLVLAGD PRQLGPVLRS PLTQKHGLGY SLLERLLTYN SLYKKGPDGY
730 740 750 760 770 780
DPQFITKLLR NYRSHPTILD IPNQLYYEGE LQACADVVDR ERFCRWAGLP RQGFPIIFHG
790 800 810 820 830 840
VMGKDEREGN SPSFFNPEEA ATVTSYLKLL LAPSSKKGKA RLSPRSVGVI SPYRKQVEKI
850 860 870 880 890 900
RYCITKLDRE LRGLDDIKDL KVGSVEEFQG QERSVILIST VRSSQSFVQL DLDFNLGFLK
910 920 930 940 950 960
NPKRFNVAVT RAKALLIIVG NPLLLGHDPD WKVFLEFCKE NGGYTGCPFP AKLDLQQGQN
970 980 990 1000
LLQGLSKLSP STSGPHSHDY LPQEREGEGG LSLQVEPEWR NEL