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 Q8IWC1

Entry ID Method Resolution Chain Position Source
AF-Q8IWC1-F1 Predicted AlphaFoldDB

587 variants for Q8IWC1

Variant ID(s) Position Change Description Diseaes Association Provenance
CA10525719
RCV002759830
rs143777754
140 E>K Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
rs1371714616
CA414624012
2 M>T No ClinGen
TOPMed
CA336121220
rs1050655942
3 A>G No ClinGen
gnomAD
rs1314470878
CA414623994
3 A>T No ClinGen
gnomAD
CA414623971
rs1050655942
3 A>V No ClinGen
gnomAD
CA414623947
rs762571492
CA10525812
4 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1440339596
CA414623937
5 G>C No ClinGen
TOPMed
gnomAD
CA414623941
rs1440339596
5 G>S No ClinGen
TOPMed
gnomAD
CA414623922
rs1333663986
6 A>T No ClinGen
gnomAD
CA414623862
rs1396871934
8 A>G No ClinGen
gnomAD
CA414623859
rs1396871934
8 A>V No ClinGen
gnomAD
CA414623845
rs1460398848
9 G>D No ClinGen
TOPMed
gnomAD
CA414623856
rs1167109526
9 G>S No ClinGen
gnomAD
CA414623848
rs1460398848
9 G>V No ClinGen
TOPMed
gnomAD
CA414623823
rs1396870827
10 A>G No ClinGen
TOPMed
gnomAD
rs1396870827
CA414623820
10 A>V No ClinGen
TOPMed
gnomAD
RCV001092163
rs2074507031
11 G>missing No ClinVar
dbSNP
CA336121208
rs1027497130
11 G>V No ClinGen
TOPMed
CA336121207
rs972685079
12 G>C No ClinGen
TOPMed
gnomAD
rs972685079
CA414623794
12 G>S No ClinGen
TOPMed
gnomAD
rs1250629517
CA414623782
12 G>V No ClinGen
gnomAD
CA414623776
rs1183479537
13 S>C No ClinGen
gnomAD
rs961339100
CA336121204
14 P>S No ClinGen
TOPMed
gnomAD
CA414623705
rs1183300894
17 R>K No ClinGen
TOPMed
TCGA novel 18 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1245807511
CA414623651
20 R>W No ClinGen
TOPMed
CA10525803
rs749484495
26 A>T No ClinGen
ExAC
gnomAD
CA10525801
rs371629235
29 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746325845
CA10525800
32 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs368853747
CA10525799
34 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1167878066
CA414621709
34 R>K No ClinGen
TOPMed
rs189595668
CA10525798
36 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA10525797
rs374772979
39 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414621488
rs1465704586
42 R>C No ClinGen
TOPMed
rs777162413
CA10525796
42 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA10525795
rs758006593
44 A>E No ClinGen
ExAC
TOPMed
rs752327864
CA10525794
45 T>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 45 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764965257
CA10525793
46 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1247296860
CA414621336
47 S>Y No ClinGen
gnomAD
rs759306838
CA10525792
50 I>V No ClinGen
ExAC
gnomAD
CA10525790
rs766296291
52 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA414621136
rs1414021866
52 S>P No ClinGen
gnomAD
CA414620820
rs752303761
58 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA10525772
rs375157826
59 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1172250953
CA414620760
60 G>E No ClinGen
TOPMed
CA10525771
rs754689236
62 M>L No ClinGen
ExAC
gnomAD
TCGA novel 62 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414620695
rs1394835961
63 L>F No ClinGen
gnomAD
rs199677050
CA10525770
64 K>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766170163
CA10525769
65 N>S No ClinGen
ExAC
gnomAD
CA10525768
rs760593115
67 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 68 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs927582575
CA336119812
69 Q>* No ClinGen
TOPMed
gnomAD
rs927582575
CA414620502
69 Q>E No ClinGen
TOPMed
gnomAD
TCGA novel 70 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414620421
rs1459011722
72 A>T No ClinGen
gnomAD
CA414620398
rs1360192118
74 E>K No ClinGen
TOPMed
CA10525766
rs750357677
75 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764183267
CA10525765
75 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 77 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762917481
CA10525764
78 E>V No ClinGen
ExAC
gnomAD
CA414620227
rs1268745957
79 K>E No ClinGen
TOPMed
CA10525763
rs775781707
80 R>K No ClinGen
ExAC
gnomAD
rs765544437
CA10525762
81 R>T No ClinGen
ExAC
gnomAD
CA10525761
rs759851653
82 Q>E No ClinGen
ExAC
CA414620106
rs1338741921
83 Q>* No ClinGen
gnomAD
rs771234960 84 D>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA10525759
rs771234960
84 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA10525757
rs747505696
85 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs951517832
CA336119419
86 N>S No ClinGen
Ensembl
CA414619876
rs1205027465
87 K>E No ClinGen
gnomAD
TCGA novel 88 E>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767324402
CA10525745
92 L>F No ClinGen
ExAC
gnomAD
CA10525744
rs757278487
96 R>G No ClinGen
ExAC
gnomAD
rs929440898
CA336119401
97 K>Q No ClinGen
TOPMed
gnomAD
CA414619628
rs1569532321
98 T>I No ClinGen
Ensembl
CA10525742
rs752768854
99 K>E No ClinGen
ExAC
CA414619545
rs1317378923
102 Y>C No ClinGen
TOPMed
CA336119393
rs1029747851
106 M>T No ClinGen
TOPMed
CA414619399
rs1569532319
108 E>* No ClinGen
Ensembl
rs759792716
CA10525740
114 K>N No ClinGen
ExAC
gnomAD
rs200913319
CA336119380
115 E>* No ClinGen
1000Genomes
CA414619209
rs1442001523
116 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs62640387
CA10525739
116 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs62640387
RCV000972142
CA10525738
116 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10525736
rs760919972
121 E>Q No ClinGen
ExAC
TOPMed
CA336119363
rs1018246532
122 Q>R No ClinGen
gnomAD
CA10525733
rs769755583
123 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs773689546
CA10525734
123 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA414619031
rs1422390411
124 R>G No ClinGen
TOPMed
rs1477871910
CA414618878
131 R>K No ClinGen
TOPMed
rs964957134
CA336119352
132 H>Q No ClinGen
TOPMed
gnomAD
CA414618855
rs1169097648
132 H>R No ClinGen
TOPMed
CA10525732
rs188131590
133 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414618771
rs1333986316
136 E>G No ClinGen
TOPMed
rs1376438182
CA414618761
137 A>T No ClinGen
TOPMed
CA414618729
rs1569532315
138 Q>R No ClinGen
Ensembl
TCGA novel 139 K>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1569532314
CA414618672
139 K>N No ClinGen
Ensembl
CA414618007
rs143777754
140 E>* No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 144 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10525718
rs761012015
144 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs201996105
CA336118109
144 A>V No ClinGen
1000Genomes
CA336118098
rs1050185379
147 Y>C No ClinGen
Ensembl
CA10525716
rs750693264
148 R>C No ClinGen
ExAC
gnomAD
CA10525715
rs764678376
148 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10525714
rs762264710
149 T>A No ClinGen
ExAC
gnomAD
CA10525712
rs769200163
152 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10525713
rs201460312
152 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1439049353
CA414617857
153 R>S No ClinGen
TOPMed
rs762416282
CA10525711
153 R>W No ClinGen
ExAC
gnomAD
rs369377574
CA10525710
155 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376263354
CA10525709
158 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10525708
rs745541241
160 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs1260665616
CA414617765
161 Q>* No ClinGen
TOPMed
rs977477380
CA336118052
161 Q>P No ClinGen
TOPMed
rs752657842
CA10525706
164 W>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10525705
rs200135363
171 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1414103345
CA414617631
172 A>T No ClinGen
gnomAD
CA10525704
rs199615957
172 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753846556
CA10525702
176 S>N No ClinGen
ExAC
gnomAD
CA10525701
rs780194081
177 K>E No ClinGen
ExAC
gnomAD
CA414617563
rs1433159402
177 K>R No ClinGen
gnomAD
CA10525690
rs781233680
179 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs759062403
CA10525689
180 N>S No ClinGen
ExAC
gnomAD
rs776328508
CA10525688
181 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA10525687
rs770751541
182 R>* No ClinGen
ExAC
gnomAD
rs372609944
CA10525686
182 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372609944
CA10525685
182 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1332739190
CA414617465
184 A>T No ClinGen
TOPMed
CA414617457
rs1389674962
184 A>V No ClinGen
gnomAD
CA10525683
rs748118854
188 K>E No ClinGen
ExAC
CA414617416
rs1463459512
188 K>N No ClinGen
gnomAD
CA414617412
rs1373634845
189 L>F No ClinGen
gnomAD
rs1167379452
CA414617406
190 E>K No ClinGen
gnomAD
rs779952877
CA10525682
191 Q>R No ClinGen
ExAC
CA10525681
rs202182914
192 G>R No ClinGen
ExAC
gnomAD
rs1224088547
CA414617373
194 S>P No ClinGen
TOPMed
TCGA novel 196 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1396385299
CA414617349
197 I>M No ClinGen
gnomAD
rs750516615
CA10525680
199 Q>R No ClinGen
ExAC
gnomAD
CA414617320
rs1266806863
201 P>L No ClinGen
TOPMed
gnomAD
rs1450686497
CA414617311
203 S>P No ClinGen
gnomAD
CA414617305
rs1265697932
204 S>P No ClinGen
gnomAD
rs927201649
CA336117771
211 V>I No ClinGen
TOPMed
gnomAD
rs1251285526
CA414617248
213 K>E No ClinGen
gnomAD
CA414617246
rs1228121309
213 K>R No ClinGen
TOPMed
gnomAD
rs377107466
CA10525670
215 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525669
rs766118553
216 T>A No ClinGen
ExAC
gnomAD
CA10525668
rs760419884
217 D>H No ClinGen
ExAC
gnomAD
rs1392448413
CA414616778
220 R>G No ClinGen
TOPMed
CA336116063
rs201114768
221 S>I No ClinGen
Ensembl
rs1322235483
CA414616761
222 S>* No ClinGen
gnomAD
rs772018995
CA414616720
228 D>G No ClinGen
ExAC
gnomAD
rs772018995
CA10525666
228 D>V No ClinGen
ExAC
gnomAD
TCGA novel 229 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747982949
CA10525665
230 N>I No ClinGen
ExAC
gnomAD
rs768516214
CA10525663
232 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs774321578
CA10525664
232 H>R No ClinGen
ExAC
gnomAD
rs1318496121
CA414616683
234 S>P No ClinGen
gnomAD
rs781306138
CA10525661
236 D>E No ClinGen
ExAC
gnomAD
CA10525660
rs757405694
238 E>K No ClinGen
ExAC
gnomAD
CA336116009
rs906169988
238 E>V No ClinGen
Ensembl
CA10525659
rs747264582
239 Q>K No ClinGen
ExAC
gnomAD
CA336115999
rs1046764494
240 A>V No ClinGen
gnomAD
rs758769943
CA336115986
241 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs758769943
CA10525657
241 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753047239
CA10525656
245 R>C No ClinGen
ExAC
gnomAD
CA10525655
rs765772763
245 R>H Variant assessed as Somatic; 6.456e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs865912308
CA414616607
246 V>F No ClinGen
TOPMed
gnomAD
rs865912308
CA336115971
246 V>I No ClinGen
TOPMed
gnomAD
CA10525638
rs191182608
249 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA414616000
rs1246693080
250 T>A No ClinGen
gnomAD
rs1163123357
CA414615982
251 N>H No ClinGen
gnomAD
rs1472096670
CA414615967
251 N>I No ClinGen
TOPMed
gnomAD
rs748535622
CA10525637
255 Q>R No ClinGen
ExAC
gnomAD
rs1464594520
CA414615857
256 Y>C No ClinGen
gnomAD
CA10525634
rs754424428
258 T>A No ClinGen
ExAC
gnomAD
CA10525633
rs779659408
258 T>I No ClinGen
ExAC
gnomAD
CA10525632
rs186064109
262 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10525631
rs749992584
262 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA336114458
rs201515852
264 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525630
rs767192894
264 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs201515852
CA10525629
264 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525627
rs763827540
267 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA336114450
rs1040342425
268 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA336114449
rs1009085283
270 R>K No ClinGen
Ensembl
rs373207756
CA10525625
271 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525624
rs769764848
276 M>T No ClinGen
ExAC
gnomAD
CA414615559
rs1282582121
277 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA336114435
rs979165202
279 M>I No ClinGen
TOPMed
rs1168536288
CA414615540
279 M>T No ClinGen
gnomAD
rs1050084357
CA336114441
279 M>V No ClinGen
Ensembl
CA414615522
rs1366792222
280 K>R No ClinGen
TOPMed
gnomAD
TCGA novel 282 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772284030
CA10525621
286 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1178166305
CA414615426
287 V>G No ClinGen
TOPMed
CA10525620
rs748326516
289 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA414615410
rs1469079640
290 S>T No ClinGen
gnomAD
CA10525617
rs182722117
291 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 293 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780671861
CA10525616
294 K>N No ClinGen
ExAC
gnomAD
rs756751014
CA10525615
295 V>G No ClinGen
ExAC
gnomAD
TCGA novel 297 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414615355
rs1294767825
298 P>S No ClinGen
TOPMed
gnomAD
CA10525613
rs780580244
299 P>S No ClinGen
ExAC
gnomAD
CA10525612
rs756866961
301 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA414615330
rs1274605922
302 S>N No ClinGen
gnomAD
CA10525611
rs751194487
303 V>M No ClinGen
ExAC
gnomAD
CA10525610
rs763857091
305 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs762707412
CA10525609
306 P>R No ClinGen
ExAC
TOPMed
CA414615306
rs1330083023
306 P>T No ClinGen
TOPMed
gnomAD
CA414615301
rs752556107
307 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA10525607
rs373379524
307 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525608
rs752556107
307 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA10525605
rs756043564
308 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756043564
CA414615297
308 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746202015 308 Q>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs772079155
CA10525604
308 Q>R No ClinGen
ExAC
rs1424791607
CA414615287
309 V>A No ClinGen
gnomAD
CA10525602
rs762042234
310 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs774410305
CA10525601
312 E>Q No ClinGen
ExAC
gnomAD
CA10525600
rs769036348
313 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1205698999
CA414615241
316 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10525599
rs749663860
317 T>A No ClinGen
ExAC
gnomAD
rs1271840059
CA414615227
318 S>N No ClinGen
gnomAD
CA414615225
rs1212455893
318 S>R No ClinGen
gnomAD
CA414615219
rs1257823883
319 M>K No ClinGen
TOPMed
CA414615204
rs1312380475
321 A>V No ClinGen
gnomAD
CA336114370
rs770367145
323 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs770367145
CA10525597
323 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1289381166
CA414615188
324 K>T No ClinGen
gnomAD
TCGA novel 325 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375909810
CA10525596
325 A>T No ClinGen
ESP
ExAC
gnomAD
rs780705327
CA10525595
325 A>V No ClinGen
ExAC
gnomAD
CA10525594
rs756700482
326 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs866075049
CA336114358
326 G>S No ClinGen
Ensembl
rs756700482
CA414615176
326 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs372752586
CA336114349
329 M>I No ClinGen
Ensembl
CA10525592
rs369779481
335 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10525593
rs369779481
335 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs930651050
CA336114315
337 S>A No ClinGen
gnomAD
CA414615103
rs1182701199
338 F>L No ClinGen
gnomAD
CA10525589
rs765025188
340 V>L No ClinGen
ExAC
gnomAD
CA10525587
rs762497051
343 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA336114289
rs887874222
344 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs761764817
CA414615049
346 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761764817
CA10525585
346 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA414615030
rs1603279617
350 S>R No ClinGen
Ensembl
rs1397149966
CA414615004
353 D>G No ClinGen
gnomAD
CA10525580
rs763280119
357 S>I No ClinGen
ExAC
gnomAD
rs1047701044
CA336114259
357 S>R No ClinGen
TOPMed
rs775930832
CA10525579
358 M>T No ClinGen
ExAC
gnomAD
rs1215372638
CA414614959
359 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA10525577
rs372561762
360 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1215996297
CA414614947
361 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA10525575
rs771537798
363 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 363 E>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414614902
rs1220099408
366 I>V No ClinGen
TOPMed
CA10525574
rs746488969
367 E>* No ClinGen
ExAC
CA10525573
rs777282418
367 E>G No ClinGen
ExAC
gnomAD
rs757982500
CA10525572
368 A>E No ClinGen
ExAC
gnomAD
rs769355084
CA336114231
368 A>T No ClinGen
1000Genomes
CA414614870
rs1254867872
369 L>F No ClinGen
gnomAD
CA336114218
rs1028701349
370 P>L No ClinGen
gnomAD
TCGA novel 375 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414614791
rs1463788907
376 T>A No ClinGen
gnomAD
rs1193925099
CA414614787
376 T>I No ClinGen
TOPMed
CA414614780
rs1569531874
377 V>L No ClinGen
Ensembl
rs1310632151
CA414614743
380 V>M No ClinGen
gnomAD
CA414614730
rs1216441158
381 S>G No ClinGen
gnomAD
CA10525565
rs756132538
381 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10525564
rs751533812
383 V>I No ClinGen
ExAC
gnomAD
rs201872497
CA10525563
386 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525561
rs775833055
387 E>G No ClinGen
ExAC
gnomAD
CA414614688
rs1569531869
387 E>K No ClinGen
Ensembl
RCV000900574
CA10525559
rs200860652
388 A>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs200271500
CA10525555
394 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1603279560
CA414614600
395 E>K No ClinGen
Ensembl
rs747701786
CA10525552
396 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs374456776
CA336114139
396 V>M No ClinGen
ESP
TOPMed
gnomAD
rs1297799302
CA414614569
397 S>N No ClinGen
TOPMed
CA10525551
rs61736704
398 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414614491
rs1285160381
404 V>G No ClinGen
TOPMed
CA10525550
rs768419685
404 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA10525547
rs755936266
406 V>A No ClinGen
ExAC
gnomAD
CA414614473
rs779911007
406 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs779911007
CA10525548
406 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1287034873
CA414614440
409 A>T No ClinGen
TOPMed
rs750404312
CA10525546
410 P>S No ClinGen
ExAC
gnomAD
rs758521409
CA10525543
413 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs758521409
CA10525544
413 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10525542
rs752893403
417 P>L No ClinGen
ExAC
gnomAD
rs1291669323
CA414614328
418 P>L No ClinGen
TOPMed
gnomAD
rs981622355
CA336114076
419 K>R No ClinGen
TOPMed
CA10525541
rs746132174
421 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 421 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1427396656
CA414614276
423 E>K No ClinGen
gnomAD
TCGA novel 425 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414614243
rs1297693728
425 A>V No ClinGen
TOPMed
rs1379044302
CA414614234
426 P>L No ClinGen
gnomAD
CA10525538
rs148588752
427 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10525537
rs373894976
427 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525535
rs772603003
428 E>A No ClinGen
ExAC
gnomAD
rs772603003
CA10525536
428 E>G No ClinGen
ExAC
gnomAD
rs773906286
CA10525532
429 S>I No ClinGen
ExAC
CA10525531
rs768133991
429 S>R No ClinGen
ExAC
rs370803568
CA10525530
430 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525529
rs779672786
432 G>A No ClinGen
ExAC
CA336114026
rs867504027
432 G>R No ClinGen
Ensembl
CA414614141
rs1350287125
434 P>L No ClinGen
gnomAD
CA414614147
rs1203172387
434 P>S No ClinGen
gnomAD
CA10525521
rs779056561
437 S>I No ClinGen
ExAC
gnomAD
rs779056561
CA10525520
437 S>N No ClinGen
ExAC
gnomAD
rs1416543263
CA414614097
CA414614096
438 M>I No ClinGen
TOPMed
gnomAD
CA10525518
rs186152913
443 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10525517
rs766563053
444 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750849881
CA10525515
445 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA414613992
rs1306839277
448 A>S No ClinGen
gnomAD
rs369912618
CA10525514
450 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1569531848
CA414613963
451 K>E No ClinGen
Ensembl
CA336113967
rs866493282
454 L>R No ClinGen
TOPMed
CA10525511
rs773781944
454 L>V No ClinGen
ExAC
gnomAD
CA414613916
rs763690316
455 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA10525510
rs763690316
455 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs769399621
CA10525507
458 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs769399621
CA10525508
458 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA414613842
rs1436733647
460 A>V No ClinGen
TOPMed
rs776582603
CA10525504
461 S>F No ClinGen
ExAC
gnomAD
rs867760315
CA336113945
461 S>P No ClinGen
Ensembl
rs1180689889
CA414613797
464 A>V No ClinGen
gnomAD
rs770927420
CA10525503
466 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1343226323
CA414613741
469 A>T Variant assessed as Somatic; 6.649e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs755067752
CA10525500
469 A>V No ClinGen
ExAC
gnomAD
CA414613719
rs1230044299
471 K>E No ClinGen
gnomAD
rs780007944
CA10525479
476 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA414612800
rs1435383856
478 Q>* Variant assessed as Somatic; 0.0001268 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10525478
rs374732743
479 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525475
rs757594551
483 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA414612739
rs1163218343
487 R>C No ClinGen
gnomAD
rs371442977
CA10525474
487 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA336113660
rs912984249
490 S>L No ClinGen
Ensembl
CA10525473
rs764649313
492 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1449162693
CA414612691
495 Y>H No ClinGen
gnomAD
rs1466328376
CA414612678
496 K>I No ClinGen
TOPMed
rs1603279285
CA414612670
497 W>* No ClinGen
Ensembl
rs367729998
CA10525470
497 W>L No ClinGen
ESP
ExAC
gnomAD
CA414612662
rs1290455641
498 S>L No ClinGen
TOPMed
gnomAD
CA414612654
rs764873457
500 S>A No ClinGen
ExAC
TOPMed
CA10525469
rs764873457
500 S>T No ClinGen
ExAC
TOPMed
CA10525468
VAR_035314
rs1055497
502 E>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA414612641
rs1055497
502 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414612640
rs1055497
502 E>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753522506
CA10525467
505 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs1299185949
CA414612612
506 G>A No ClinGen
gnomAD
CA10525466
rs766178650
508 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 509 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA336113624
rs1035753019
510 P>L No ClinGen
Ensembl
rs1001478277
CA336113620
511 I>N No ClinGen
Ensembl
CA414612574
rs1268769472
513 T>P No ClinGen
gnomAD
rs1439000073
CA414612568
514 N>D No ClinGen
gnomAD
CA414612537
rs1569531800
516 Q>H No ClinGen
Ensembl
rs1308681293
CA414612534
517 I>V No ClinGen
gnomAD
CA10525443
rs776943377
518 Q>TS* No ClinGen
ExAC
rs1368816189
CA414612514
519 K>N No ClinGen
gnomAD
rs377428574
CA10525442
520 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs913363722
CA336113386
521 C>G No ClinGen
gnomAD
rs1171846217
CA414612496
522 P>H No ClinGen
gnomAD
CA10525440
rs761763866
522 P>S No ClinGen
ExAC
gnomAD
TCGA novel 526 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414612456
rs1479405446
529 I>L No ClinGen
gnomAD
rs199975497
CA10525439
529 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525438
rs768621620
530 S>* No ClinGen
ExAC
TCGA novel 531 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs928357564
CA336113340
532 Q>P No ClinGen
TOPMed
TCGA novel 536 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414612399
rs1182835994
537 S>Y No ClinGen
gnomAD
TCGA novel 539 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1603279196
CA414612388
539 P>S No ClinGen
Ensembl
rs1301476220
CA414612318
548 T>I No ClinGen
TOPMed
CA414612308
rs1342650405
550 S>F No ClinGen
TOPMed
rs759607411
CA414612293
552 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1482407083
CA414612297
552 Q>R No ClinGen
gnomAD
CA10525436
rs776705553
554 A>T No ClinGen
ExAC
gnomAD
rs751380423
CA10525434
556 S>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1222107569
CA414612265
557 T>A No ClinGen
TOPMed
gnomAD
rs77878574
CA336113312
559 K>R No ClinGen
1000Genomes
rs199800251
CA10525433
560 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs199800251
CA414612244
560 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs748582851
VAR_077003
CA10525431
561 K>R No ClinGen
UniProt
ExAC
dbSNP
gnomAD
CA10525430
rs779554592
563 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA414612205
rs1449018339
566 S>P No ClinGen
gnomAD
TCGA novel 566 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA336113296
rs979755064
569 T>A No ClinGen
Ensembl
rs1266277412
CA414612180
570 N>D No ClinGen
TOPMed
CA10525428
rs755596289
570 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA414612174
rs1194038671
571 R>G No ClinGen
TOPMed
rs376693758
CA10525427
575 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525425
rs201858503
576 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758175111
CA10525426
576 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1404801461
CA414612108
580 M>K No ClinGen
TOPMed
CA10525424
rs750067467
580 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs767250374
CA10525423
584 E>K No ClinGen
ExAC
CA414612049
rs1569531728
586 G>D No ClinGen
Ensembl
CA10525415
rs766390513
587 N>Y No ClinGen
ExAC
gnomAD
CA414612028
rs1603278609
589 S>I No ClinGen
Ensembl
CA10525414
rs746973961
591 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA414612012
rs1321043572
592 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10525413
rs773272011
595 N>K No ClinGen
ExAC
gnomAD
rs1452937753
CA414611988
595 N>S No ClinGen
gnomAD
CA336112394
rs1012711688
597 E>K No ClinGen
TOPMed
gnomAD
CA10525411
rs748506605
598 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1038083435
CA336112375
605 E>* No ClinGen
TOPMed
CA414611924
rs1451019002
605 E>G No ClinGen
TOPMed
gnomAD
CA10525409
rs371634445
607 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10525408
rs539743928
607 R>H No ClinGen
ExAC
gnomAD
CA414611907
rs1485163118
608 R>C No ClinGen
TOPMed
gnomAD
rs200878951
CA10525407
608 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10525406
rs755559892
609 L>F No ClinGen
ExAC
gnomAD
rs184771319
CA336112318
610 A>V No ClinGen
1000Genomes
CA10525404
rs780704758
611 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs192547609
CA10525403
611 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA336112296
rs896787571
614 R>T No ClinGen
TOPMed
TCGA novel 615 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751289402
CA10525402
615 E>G No ClinGen
ExAC
gnomAD
CA414611859
rs1241982402
616 K>E No ClinGen
TOPMed
TCGA novel 619 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756258024
CA10525397
623 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA414611805
rs1295159253
623 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs200510790
CA10525396
626 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414611778
rs1431233658
627 Q>K No ClinGen
gnomAD
CA10525395
rs199946922
628 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs2273221
CA414611767
628 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10525394
rs2273221
VAR_035315
628 Q>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10525378
rs372585236
630 V>F No ClinGen
ESP
ExAC
gnomAD
CA10525379
rs372585236
630 V>L No ClinGen
ESP
ExAC
gnomAD
CA414611740
rs1361876349
631 I>V No ClinGen
TOPMed
rs752551909
CA10525377
632 K>E No ClinGen
ExAC
gnomAD
CA414611714
rs1569531687
634 S>L No ClinGen
Ensembl
rs1247063765
CA414611693
637 M>T No ClinGen
TOPMed
TCGA novel 639 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10525376
rs778698288
640 E>K No ClinGen
ExAC
gnomAD
CA414611662
rs1265222850
641 A>V No ClinGen
TOPMed
rs754951644
CA10525375
642 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1487737931
CA414611660
642 V>I No ClinGen
TOPMed
TCGA novel 644 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs982976004
CA336111613
644 G>S No ClinGen
TOPMed
gnomAD
CA10525374
rs750406772
646 A>P No ClinGen
ExAC
rs767671051
CA10525373
646 A>V No ClinGen
ExAC
gnomAD
rs751811096
CA10525369
649 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1245734840
CA414611606
650 L>W No ClinGen
TOPMed
CA10525368
rs201275672
652 L>I No ClinGen
1000Genomes
ExAC
gnomAD
rs757575623
CA10525367
655 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1029387590
CA336111573
656 Q>R No ClinGen
Ensembl
rs1281250861
CA414611560
657 Q>* No ClinGen
gnomAD
rs1230168942
CA414611550
658 Q>R No ClinGen
gnomAD
TCGA novel 659 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10525366
rs201003220
660 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414611511
rs1367649703
663 K>N No ClinGen
TOPMed
CA10525365
rs770141603
664 K>E No ClinGen
ExAC
gnomAD
rs760120518
CA10525363
669 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA414611456
rs1303091241
671 E>G No ClinGen
gnomAD
CA336111541
rs1046459058
672 D>E No ClinGen
TOPMed
gnomAD
CA10525362
rs775954906
673 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1427645572
CA414611441
673 Q>L No ClinGen
gnomAD
rs770404598
CA10525361
675 A>E No ClinGen
ExAC
gnomAD
CA336111012
rs922866667
679 K>N No ClinGen
Ensembl
rs1458199284
CA414611383
680 G>E No ClinGen
gnomAD
CA414611386
rs1323048568
680 G>R No ClinGen
gnomAD
rs764399497
CA10525350
682 A>T No ClinGen
ExAC
gnomAD
CA336110994
rs911376824
683 K>R No ClinGen
gnomAD
rs1391637460
CA414611353
685 K>E No ClinGen
TOPMed
rs989268143
CA336110982
687 Q>P No ClinGen
Ensembl
rs1307173440
CA414611331
688 E>Q No ClinGen
TOPMed
CA414611321
rs1368515120
689 E>G No ClinGen
TOPMed
CA10525348
rs752938922
691 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs765656182
CA10525347
693 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs371085349
CA10525345
693 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10525346
rs371085349
693 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525344
rs377561911
694 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414611265
rs1303729121
697 H>R No ClinGen
TOPMed
gnomAD
rs760163016
CA10525342
698 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1272894757
CA414611260
698 E>Q No ClinGen
TOPMed
TCGA novel 699 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 699 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10525341
rs772719195
701 M>T No ClinGen
ExAC
gnomAD
CA10525339
rs747869154
705 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA414611203
rs1244783956
706 Q>K No ClinGen
gnomAD
CA10525338
RCV000892427
rs191075892
708 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs749079649
CA10525336
710 E>G No ClinGen
ExAC
gnomAD
rs768478953
CA10525337
710 E>K No ClinGen
ExAC
gnomAD
TCGA novel 713 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 714 R>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201140656
CA10525323
715 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 716 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1169402456
CA414611121
716 E>A No ClinGen
gnomAD
CA10525321
rs761170815
716 E>K No ClinGen
ExAC
gnomAD
rs761282315
CA10525318
721 R>Q No ClinGen
ExAC
gnomAD
CA10525319
rs767040493
721 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA10525317
rs774025753
723 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA414611051
rs1429849593
726 D>G No ClinGen
gnomAD
CA10525316
rs377132183
727 V>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414611034
rs1489598985
729 A>S No ClinGen
gnomAD
CA414611024
rs1391599422
730 S>* No ClinGen
TOPMed
CA336108578
rs993191197
733 T>A No ClinGen
TOPMed
CA10525302
rs750911192
733 T>K No ClinGen
ExAC
gnomAD
rs768055078
CA10525301
735 T>A No ClinGen
ExAC
gnomAD
CA336108565
rs927124899
737 S>N No ClinGen
TOPMed
gnomAD
rs1177329800
CA414610973
737 S>R No ClinGen
gnomAD
rs1377500420
CA414610962
738 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA414610965
rs1469206138
738 H>Y No ClinGen
gnomAD
CA414610954
rs1300700168
739 D>G No ClinGen
gnomAD
CA414610942
rs1230779430
741 Y>H No ClinGen
gnomAD
rs939293841
CA336108563
743 E>A No ClinGen
TOPMed
rs762516935
CA10525297
749 E>K Variant assessed as Somatic; 6.279e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA336108552
rs926913173
750 E>V No ClinGen
gnomAD
CA414610865
rs1441234645
751 S>I No ClinGen
TOPMed
rs1307768611
CA414610859
752 D>G No ClinGen
gnomAD
CA10525295
rs753724897
752 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10525296
rs753724897
752 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA336108521
rs376495633
753 K>E No ClinGen
ESP
gnomAD
CA414610856
rs376495633
753 K>Q No ClinGen
ESP
gnomAD
rs745697256
CA10525294
753 K>T No ClinGen
ExAC
gnomAD
rs776702818
CA10525293
756 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs770830329
CA10525292
757 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs1335912257
CA414610807
759 M>I No ClinGen
gnomAD
CA10525291
rs748198519
760 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs778861534
CA10525290
762 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA414610727
rs1278874420
770 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA414610724
rs1289320780
771 P>S No ClinGen
gnomAD
rs1339939318
CA414610720
772 T>P No ClinGen
TOPMed
CA10525276
rs765049332
773 K>R No ClinGen
ExAC
gnomAD
CA10525275
rs759390802
776 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs776578303
CA10525274
777 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA10525271
rs774436016
779 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs774436016
CA10525272
779 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs1487103710
CA414610647
782 K>R No ClinGen
TOPMed
rs749413829
CA10525269
784 M>I No ClinGen
ExAC
gnomAD
CA414610625
rs1485215295
785 T>A No ClinGen
TOPMed
gnomAD
rs1477221780
CA414610611
787 K>E No ClinGen
TOPMed
rs1477221780
CA414610612
787 K>Q No ClinGen
TOPMed
rs770063034
CA10525267
789 V>I No ClinGen
ExAC
gnomAD
CA414610598
rs770063034
789 V>L No ClinGen
ExAC
gnomAD
rs1190934700
CA414610573
793 D>N No ClinGen
TOPMed
CA414610558
rs1289783890
795 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs746175364
CA10525266
795 T>I No ClinGen
ExAC
gnomAD
CA414610534
rs1296114718
798 V>A No ClinGen
gnomAD
rs781417025
CA10525265
799 R>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 799 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757743037
CA10525264
800 K>R No ClinGen
ExAC
gnomAD
CA414610508
rs1304902176
802 P>R No ClinGen
gnomAD
TCGA novel 808 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10525262
rs778383781
811 K>E No ClinGen
ExAC
gnomAD
rs371145444
CA10525261
815 Q>E No ClinGen
ESP
ExAC
TCGA novel 816 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414610393
rs1300835184
818 M>V No ClinGen
TOPMed
gnomAD
rs752311166
CA10525260
820 D>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 820 D>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414610369
rs1398196685
821 T>S No ClinGen
TOPMed
CA414610359
rs1373988184
822 S>L No ClinGen
gnomAD
CA336107696
rs943029515
823 I>V No ClinGen
TOPMed
gnomAD
rs764924415
CA10525259
824 Q>E No ClinGen
ExAC
gnomAD
rs764924415
CA414610352
824 Q>K No ClinGen
ExAC
gnomAD
rs1200791284
CA414610316
829 R>T No ClinGen
gnomAD
CA10525240
rs753019294
840 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs766098943
CA10525239
840 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs753019294
CA414610230
840 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA336107153
rs923315664
844 K>R No ClinGen
gnomAD
rs1469718469
CA414610199
845 A>T No ClinGen
gnomAD
CA336107137
rs974772794
845 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA10525236
rs767388268
848 T>A No ClinGen
ExAC
gnomAD
TCGA novel 851 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1489056255
CA414610114
856 A>T No ClinGen
TOPMed
CA414610096
rs779609792
858 T>I No ClinGen
ExAC
gnomAD
rs779609792
CA10525223
858 T>R No ClinGen
ExAC
gnomAD
TCGA novel 859 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10525222
rs372900357
860 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10525220
rs368994509
864 H>R No ClinGen
ESP
ExAC
gnomAD
CA10525219
rs755808422
866 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA414610044
rs1384341570
866 I>V No ClinGen
gnomAD
CA10525218
rs750122462
870 S>F No ClinGen
ExAC
rs768702771
CA10525217
872 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1386038447
CA414610006
872 D>N No ClinGen
gnomAD
CA414609995
rs1423891851
873 T>I No ClinGen
TOPMed
CA414609990
rs1443724662
874 F>Y No ClinGen
gnomAD
rs1437301141
CA414609974
876 Q>P No ClinGen
gnomAD

No associated diseases with Q8IWC1

No regional properties for Q8IWC1

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q8IWC1

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton, spindle
  • Localizes to the microtubules throughout mitosis
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microtubule cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.
spindle The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.

2 GO annotations of molecular function

Name Definition
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
tubulin binding Binding to monomeric or multimeric forms of tubulin, including microtubules.

2 GO annotations of biological process

Name Definition
microtubule cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
microtubule polymerization The addition of tubulin heterodimers to one or both ends of a microtubule.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q14244 MAP7 Ensconsin Homo sapiens (Human) PR
10 20 30 40 50 60
MMADGAAAGA GGSPSLRELR ARMVAAANEI AKERRKQDVV NRVATHSSNI RSTFKPVIDG
70 80 90 100 110 120
SMLKNDIKQR LARERREEKR RQQDANKETQ LLEKERKTKL QYEKQMEERQ RKLKERKEKE
130 140 150 160 170 180
EQRRIAAEEK RHQKDEAQKE KFTAILYRTL ERRRLADDYQ QKRWSWGGSA MANSESKTAN
190 200 210 220 230 240
KRSASTEKLE QGTSALIRQM PLSSAGLQNS VAKRKTDKER SSSLNRRDSN LHSSTDKEQA
250 260 270 280 290 300
ERKPRVTGVT NYVMQYVTVP LRKCTSDELR AVMFPMSTMK IPPQTKVEES PLEKVETPPK
310 320 330 340 350 360
ASVDAPPQVN VEVFCNTSME ASPKAGVGMA PEVSTDSFPV VSVDVSPVVS TYDSEMSMDA
370 380 390 400 410 420
SPELSIEALP KVDLETVPKV SIVASPEASL EAPPEVSLEA LPEVSVEAAP EGSLEAPPKG
430 440 450 460 470 480
SAEVAPKESV KGSPKESMEA SPEAMVKASP KTSLEASMEA SPKAKARDAP KKSEMDKQAL
490 500 510 520 530 540
IPIAKKRLSS YTECYKWSSS PENACGLPSP ISTNRQIQKN CPPSPLPLIS KQSPQTSFPY
550 560 570 580 590 600
KIMPIQHTLS VQSASSTVKK KKETVSKTTN RCEALSQRHM IYEESGNKST AGIMNAEAAT
610 620 630 640 650 660
KILTELRRLA REQREKEEEE RQREEMQQRV IKKSKDMAKE AVGGQAEDHL KLKDGQQQNE
670 680 690 700 710 720
TKKKKGWLDQ EDQEAPLQKG DAKIKAQEEA DKRKKEHERI MLQNLQERLE RKKRIEEIMK
730 740 750 760 770 780
RTRKTDVNAS KVTETSSHDI YEEAEADNEE SDKDSLNEMF PSAILNGTGS PTKFKMPFNN
790 800 810 820 830 840
AKKMTHKLVF LEDGTSQVRK EPKTYFNGDL KNFRQKSMKD TSIQEVVSRP SSKRMTSHTT
850 860 870
KTRKADETNT TSRSSAQTKS EGFHDILPKS SDTFRQ