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 O75427

Entry ID Method Resolution Chain Position Source
AF-O75427-F1 Predicted AlphaFoldDB

594 variants for O75427

Variant ID(s) Position Change Description Diseaes Association Provenance
rs201008650
CA163283092
2 A>G No ClinGen
gnomAD
CA368549055
rs1162742401
3 A>G No ClinGen
gnomAD
CA368549052
rs1162742401
3 A>V No ClinGen
gnomAD
rs1473162611
CA368549045
4 A>P No ClinGen
gnomAD
rs1457183045
CA368549024
5 V>A No ClinGen
TOPMed
gnomAD
CA368549029
CA368549026
rs1176674621
5 V>L No ClinGen
gnomAD
rs1319571981
CA368549008
6 A>E No ClinGen
gnomAD
rs1319571981
CA368549004
6 A>G No ClinGen
gnomAD
rs1200254788
CA368549018
6 A>T No ClinGen
gnomAD
rs776401187
CA4384826
7 A>V No ClinGen
ExAC
gnomAD
CA4384825
rs768841691
9 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA4384824
rs761102006
11 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA368548906
rs1444730682
12 G>R No ClinGen
gnomAD
rs965954364
CA368548890
13 G>C No ClinGen
TOPMed
gnomAD
rs965954364
CA163283057
13 G>S No ClinGen
TOPMed
gnomAD
rs772586363
CA4384822
13 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1416011438
CA368548865
15 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs866659553
CA163283037
16 A>V No ClinGen
gnomAD
rs1446914410
CA368548839
17 A>T No ClinGen
TOPMed
rs1380778082
CA368548823
18 A>T No ClinGen
gnomAD
rs1180286426
CA368548808
18 A>V No ClinGen
gnomAD
CA368548806
rs1487382406
19 T>A No ClinGen
gnomAD
CA4384820
rs771102730
22 V>L No ClinGen
ExAC
gnomAD
CA4384819
rs771102730
22 V>M No ClinGen
ExAC
gnomAD
CA368548730
rs1271053402
23 P>S No ClinGen
TOPMed
CA368548686
rs377121985
25 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384816
rs377121985
25 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368548683
rs377121985
25 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368548670
rs1365896901
26 P>L No ClinGen
gnomAD
rs1225889952
CA368548672
26 P>S No ClinGen
gnomAD
CA368548653
rs1437492075
27 G>D No ClinGen
gnomAD
CA368548629
rs1367632228
29 P>T No ClinGen
gnomAD
CA368548602
rs1296439470
30 G>E No ClinGen
gnomAD
rs1364573134
CA368548609
30 G>W No ClinGen
TOPMed
rs373246308
CA4384814
32 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1431278475
CA368548550
33 S>N No ClinGen
gnomAD
CA4384813
rs369514792
33 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368548534
rs1424172376
34 A>T No ClinGen
gnomAD
rs1191516384
CA368548526
34 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs764824645
CA4384811
36 R>G No ClinGen
ExAC
gnomAD
CA368548501
rs1260506225
36 R>Q No ClinGen
gnomAD
rs764824645
CA4384812
36 R>W No ClinGen
ExAC
gnomAD
CA368548493
rs1215344215
37 A>P No ClinGen
TOPMed
gnomAD
CA368548496
rs1215344215
37 A>T No ClinGen
TOPMed
gnomAD
rs1304895039
CA368548481
37 A>V No ClinGen
TOPMed
rs753362292
CA4384809
39 E>G No ClinGen
ExAC
gnomAD
CA4384810
rs149959065
39 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753362292
CA368548448
39 E>V No ClinGen
ExAC
gnomAD
CA163283005
rs909150
40 E>D No ClinGen
Ensembl
CA368548406
rs1403834616
COSM1446585
41 A>V large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA4384808
rs763834783
43 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA368548377
rs1220122713
43 A>V No ClinGen
gnomAD
rs139180317
CA4384807
44 T>I No ClinGen
ESP
ExAC
gnomAD
rs139180317
CA368548364
44 T>N No ClinGen
ESP
ExAC
gnomAD
rs139180317
CA368548361
44 T>S No ClinGen
ESP
ExAC
gnomAD
rs377766601
CA4384805
45 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368548323
rs1341186997
46 T>N No ClinGen
gnomAD
rs1337137343
CA368548333
46 T>P No ClinGen
TOPMed
rs1026903358
CA163282962
48 N>I No ClinGen
TOPMed
CA368548262
rs1223796614
51 N>S No ClinGen
TOPMed
CA4384800
rs777810122
52 R>Q No ClinGen
ExAC
gnomAD
CA4384801
rs749418398
52 R>W No ClinGen
ExAC
gnomAD
CA4384798
rs748420896
53 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4384797
rs779990445
53 R>L No ClinGen
ExAC
gnomAD
rs748420896
CA368548223
53 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA368548200
rs1179938670
54 L>W No ClinGen
TOPMed
rs1482572327
CA368548179
55 K>N No ClinGen
TOPMed
gnomAD
rs758324776
CA368548163
56 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1326090720
CA368548144
58 P>T No ClinGen
gnomAD
CA368548132
rs756678338
TCGA novel
59 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
CA4384792
rs753407580
59 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs756678338
CA4384793
59 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1378428957
CA368548101
62 A>T No ClinGen
gnomAD
rs975752731
CA163282885
63 R>C No ClinGen
gnomAD
rs767815300
CA4384788
63 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs767815300
CA163282874
63 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs374940211
CA4384786
65 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1162099143
CA368548032
67 L>M No ClinGen
gnomAD
CA368547974
rs1462969296
71 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs200251319
CA4384783
71 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA4384782
rs371707535
72 Q>L No ClinGen
ESP
ExAC
gnomAD
CA368547932
COSM743727
rs1318893369
74 D>N lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA4384734
rs370331867
77 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773153494
CA4384735
77 R>W No ClinGen
ExAC
gnomAD
rs1584410103
CA368546528
78 N>T No ClinGen
Ensembl
CA368546504
rs1156743671
79 R>Q No ClinGen
TOPMed
gnomAD
rs1367434984
CA368546511
79 R>W No ClinGen
gnomAD
CA4384733
rs557058360
81 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA4384730
rs377324041
82 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384731
rs377324041
82 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368546445
rs1476845029
83 V>M No ClinGen
TOPMed
gnomAD
COSM1312472
CA4384726
rs779466665
85 E>K Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs148352509
CA4384725
86 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764215412
CA4384723
87 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA368546339
rs1584410047
88 C>G No ClinGen
Ensembl
rs1282868316
CA368546285
90 L>P No ClinGen
gnomAD
TCGA novel 94 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767657708
CA4384720
94 E>K No ClinGen
ExAC
gnomAD
rs1452994805
CA368546206
95 G>D No ClinGen
gnomAD
CA163280108
rs759852946
97 S>I No ClinGen
ExAC
gnomAD
CA4384719
rs759852946
97 S>N No ClinGen
ExAC
gnomAD
CA4384718
rs772852644
98 L>P No ClinGen
ExAC
gnomAD
rs1412544758
CA368546031
102 C>W No ClinGen
gnomAD
CA368545989
rs769644731
104 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs769644731
CA4384717
COSM743728
104 R>T lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761724792
CA4384716
105 C>Y No ClinGen
ExAC
CA368545920
rs1584410005
107 N>T No ClinGen
Ensembl
rs746531511
CA4384712
111 G>E No ClinGen
ExAC
gnomAD
CA368545726
rs1218452450
115 A>D No ClinGen
gnomAD
rs1562809156
CA368545735
115 A>T No ClinGen
Ensembl
CA368545689
rs1584409962
117 T>P No ClinGen
Ensembl
CA368545655
rs1310783828
118 Y>F No ClinGen
gnomAD
rs1310783828
CA368545654
118 Y>S No ClinGen
gnomAD
CA368545588
rs1314970598
120 N>S No ClinGen
TOPMed
CA4384709
rs745570035
121 L>F No ClinGen
ExAC
gnomAD
CA368545548
rs1296031955
122 S>R No ClinGen
TOPMed
CA4384692
rs771675049
122 S>R No ClinGen
ExAC
gnomAD
CA4384691
rs745489976
123 R>* No ClinGen
ExAC
gnomAD
CA4384690
rs774155638
123 R>Q No ClinGen
ExAC
gnomAD
rs1469307623
CA368545425
124 N>S No ClinGen
TOPMed
CA368545373
rs1297227962
127 S>L No ClinGen
gnomAD
CA163279906
rs1026477805
131 P>L No ClinGen
TOPMed
CA4384688
rs749694509
134 C>F No ClinGen
ExAC
gnomAD
rs1311024920
CA368545046
135 Q>H No ClinGen
gnomAD
CA4384687
rs778335117
137 P>S No ClinGen
ExAC
gnomAD
CA368544998
rs1160059095
141 L>F No ClinGen
TOPMed
CA4384684
rs375555119
143 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA368544930
rs1158239136
145 N>K No ClinGen
TOPMed
CA4384682
rs751713297
150 A>G No ClinGen
ExAC
gnomAD
rs766617482
CA4384681
152 P>L No ClinGen
ExAC
gnomAD
CA4384680
rs756995516
153 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs376458621
CA4384678
154 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384677
rs763987791
156 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1584409643
CA368544791
157 T>P No ClinGen
Ensembl
CA368544784
rs1391505302
157 T>S No ClinGen
TOPMed
CA4384676
rs760520509
162 R>* No ClinGen
ExAC
gnomAD
rs1181461905
CA368544699
COSM1082873
162 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs775551944
CA4384675
163 Q>R No ClinGen
ExAC
gnomAD
rs907271094
CA163279857
164 L>F No ClinGen
TOPMed
rs762682145 165 D>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA368544463
rs1469493732
166 V>A No ClinGen
gnomAD
CA4384651
rs376833789
166 V>M No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs769985518
CA4384650
167 S>N No ClinGen
ExAC
gnomAD
CA368544387
rs1474460131
168 S>R No ClinGen
gnomAD
CA163279759
rs149222783
169 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1010541239
CA163279767
169 N>S No ClinGen
Ensembl
rs1193775558
CA368544284
170 E>* No ClinGen
gnomAD
rs776954148
CA4384648
170 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1193775558
CA368544286
170 E>Q No ClinGen
gnomAD
CA4384646
rs747551194
172 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs541658430
CA163279745
175 P>L No ClinGen
1000Genomes
rs577346930
CA4384642
176 S>L No ClinGen
1000Genomes
ExAC
gnomAD
CA368544073
rs1336015034
178 L>R No ClinGen
gnomAD
CA368544055
rs1428587182
179 C>W No ClinGen
TOPMed
rs559237662
CA163279744
181 L>P No ClinGen
1000Genomes
rs144925164
CA368544008
182 S>C No ClinGen
1000Genomes
ExAC
gnomAD
rs144925164
CA4384640
182 S>F No ClinGen
1000Genomes
ExAC
gnomAD
CA368543955
rs780893020
185 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA4384639
rs780893020
185 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA368543960
rs1367899449
185 R>W No ClinGen
TOPMed
gnomAD
CA4384637
rs751604651
186 D>N No ClinGen
ExAC
gnomAD
CA368543950
rs751604651
186 D>Y No ClinGen
ExAC
gnomAD
rs138523541
CA4384636
188 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750002351
CA4384634
189 V>I No ClinGen
ExAC
gnomAD
CA4384633
rs764962596
190 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368543823
rs1476360883
190 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4384632
rs761421119
193 Q>K No ClinGen
ExAC
gnomAD
rs777022450
CA4384631
193 Q>R No ClinGen
ExAC
gnomAD
CA4384630
rs769071548
195 S>G No ClinGen
ExAC
gnomAD
CA4384629
rs369431110
195 S>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769071548
CA368543676
195 S>R No ClinGen
ExAC
gnomAD
rs149828516
CA4384628
196 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1245763705
CA368543599
COSM1082872
199 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA368541548
rs1584406359
203 D>A No ClinGen
Ensembl
rs535627175
CA163277481
203 D>Y No ClinGen
TOPMed
gnomAD
CA4384599
rs146938731
204 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs183189535
CA163277479
205 P>A No ClinGen
1000Genomes
CA4384598
rs368111306
205 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384597
rs551961361
208 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs539637465
CA4384595
208 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs539637465
CA4384596
208 R>L No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 211 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 212 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4384594
rs753461028
215 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368541270
rs1287025294
COSM1082871
215 R>H Variant assessed as Somatic; 0.0 impact. endometrium stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA4384592
RCV000881736
rs52833865
216 V>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4384591
rs753031999
218 R>* No ClinGen
ExAC
gnomAD
CA368541216
rs753031999
218 R>G No ClinGen
ExAC
gnomAD
CA368541211
rs767940631
218 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA4384590
rs767940631
218 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 220 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA368541062
rs1176615772
225 R>C No ClinGen
TOPMed
gnomAD
CA4384588
rs372575327
225 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368541068
rs1176615772
225 R>S No ClinGen
TOPMed
gnomAD
CA368541034
rs1427911148
227 R>G No ClinGen
gnomAD
rs1485797471
CA368540965
230 Q>P No ClinGen
gnomAD
rs762977065
CA4384586
231 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs368249205
CA4384583
236 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368540840
rs1262735113
236 S>N No ClinGen
gnomAD
CA4384582
rs775420067
236 S>R No ClinGen
ExAC
gnomAD
rs375534637
CA4384581
237 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1402336680
CA368540814
238 P>T No ClinGen
TOPMed
CA4384578
rs770432048
240 Q>E No ClinGen
ExAC
gnomAD
rs748777489
CA368540780
241 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA368540779
rs1450183630
241 S>N No ClinGen
gnomAD
rs748777489
CA4384577
241 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1404979940
CA368540766
243 P>S No ClinGen
gnomAD
rs777307216
CA4384576
244 A>P No ClinGen
ExAC
rs1436992966
CA368540758
244 A>V No ClinGen
TOPMed
gnomAD
CA368540644
rs1305822772
247 C>* No ClinGen
gnomAD
CA4384542
rs764242893
254 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA163277340
rs1045292467
255 F>S No ClinGen
TOPMed
gnomAD
rs760999862
CA4384541
259 S>F No ClinGen
ExAC
gnomAD
CA4384540
rs563982959
260 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs147809975
CA4384539
262 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368540277
rs1473010846
262 A>V No ClinGen
gnomAD
CA4384536
rs769255269
263 G>E No ClinGen
ExAC
gnomAD
CA4384537
rs377254850
263 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384535
rs747681853
265 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs776255264
CA4384534
265 R>H No ClinGen
ExAC
gnomAD
CA368540229
rs776255264
265 R>L No ClinGen
ExAC
gnomAD
CA163277326
rs200374154
267 S>L No ClinGen
TOPMed
gnomAD
CA4384531
rs780267624
270 G>R No ClinGen
ExAC
gnomAD
rs746305510
CA4384529
271 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA4384530
rs758847147
271 D>N No ClinGen
ExAC
gnomAD
CA368540117
rs779591158
272 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs757359484
CA4384527
272 L>R No ClinGen
ExAC
gnomAD
CA4384526
rs753836677
274 P>L No ClinGen
ExAC
gnomAD
CA368540065
rs1383283071
275 S>C No ClinGen
gnomAD
rs563611987
CA4384524
276 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA4384525
rs764303783
276 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs752980657
CA4384523
277 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA368540045
rs752980657
277 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs766099566
CA368540019
278 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs766099566
CA4384522
278 P>Q No ClinGen
ExAC
gnomAD
rs773086125
CA4384520
281 S>R No ClinGen
ExAC
gnomAD
rs765137965
CA4384519
282 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA368539768
rs1360017754
283 C>* No ClinGen
TOPMed
CA368539730
rs765082338
285 A>G No ClinGen
ExAC
gnomAD
CA4384500
rs149693391
285 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4384499
rs765082338
285 A>V No ClinGen
ExAC
gnomAD
rs1229654658
CA368539691
287 D>V No ClinGen
gnomAD
rs1313310339
CA368539633
290 P>A No ClinGen
gnomAD
CA4384497
rs753827515
290 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA163277260
rs1025421229
292 H>R No ClinGen
TOPMed
gnomAD
CA4384495
rs573328250
292 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA368539556
rs771824805
293 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA4384493
rs771824805
293 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4384494
rs187288824
COSM1082870
293 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA163277249
rs531826474
295 D>G No ClinGen
TOPMed
gnomAD
rs774845337
CA4384491
295 D>N No ClinGen
ExAC
gnomAD
TCGA novel 296 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4384490
rs771438499
296 G>S No ClinGen
ExAC
gnomAD
rs1012491686
CA163277247
296 G>V No ClinGen
TOPMed
gnomAD
rs749694842
CA4384488
298 L>M No ClinGen
ExAC
gnomAD
CA368539400
rs1179108228
299 D>E No ClinGen
TOPMed
gnomAD
CA368539384
rs1251857396
300 S>L No ClinGen
gnomAD
CA163277244
rs182581434
301 G>C No ClinGen
1000Genomes
rs142600009
CA4384485
305 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA163277239
rs1026827777
306 D>V No ClinGen
Ensembl
CA4384483
rs539671273
308 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1440171980
CA368539237
309 S>R No ClinGen
gnomAD
CA368539200
rs1345603203
311 R>K No ClinGen
gnomAD
rs755191108
CA4384482
312 W>G No ClinGen
ExAC
gnomAD
CA163277232
rs76980489
313 S>A No ClinGen
Ensembl
rs1308669747
CA368539121
314 G>E No ClinGen
gnomAD
TCGA novel 316 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA368537580
rs1400423923
317 S>* No ClinGen
TOPMed
CA4384460
rs777468490
318 T>A No ClinGen
ExAC
gnomAD
rs756072567
CA4384459
318 T>I No ClinGen
ExAC
gnomAD
CA368537547
rs1478618416
319 D>N No ClinGen
gnomAD
TCGA novel 319 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA368537517
rs1248820136
320 E>K No ClinGen
gnomAD
rs1466812553
CA368537423
322 S>L No ClinGen
TOPMed
rs767069957
CA4384457
327 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4384458
rs752697341
327 R>W No ClinGen
ExAC
gnomAD
CA368537290
rs1562806219
328 I>F No ClinGen
Ensembl
CA368537234
rs1268975152
329 S>L No ClinGen
gnomAD
TCGA novel 331 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM3698050
CA4384455
rs191101243
333 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs377002060
CA4384456
333 R>W Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA163277142
rs919739720
335 P>A No ClinGen
TOPMed
gnomAD
CA163277149
rs919739720
335 P>S No ClinGen
TOPMed
gnomAD
rs762557450
CA4384454
336 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA4384453
rs762557450
336 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1318708986
CA368537132
336 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA163277140
rs1011889505
337 G>E No ClinGen
TOPMed
CA4384451
rs765580734
337 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA4384449
rs77942585
338 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs386716129
CA163277138
338 P>S No ClinGen
Ensembl
rs144231638
CA163277134
341 R>C No ClinGen
ESP
ExAC
gnomAD
COSM1195561
rs368611886
CA4384447
341 R>H lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
rs368611886
CA4384446
341 R>P No ClinGen
ESP
ExAC
gnomAD
rs144231638
CA4384448
341 R>S No ClinGen
ESP
ExAC
gnomAD
rs954887975
CA163277129
342 K>E No ClinGen
Ensembl
TCGA novel 342 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4384443
rs376109684
343 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384444
rs376109684
343 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1248985887
CA368536992
345 G>S No ClinGen
gnomAD
rs1056466447
CA163277106
347 A>V No ClinGen
gnomAD
rs1220596344
CA368536898
348 D>H No ClinGen
TOPMed
rs369164222
CA4384426
349 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769664168
CA368536864
350 D>A No ClinGen
ExAC
gnomAD
rs769664168
CA4384425
350 D>G No ClinGen
ExAC
gnomAD
rs781177002
CA4384423
351 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs747934379
CA4384424
351 P>S No ClinGen
ExAC
gnomAD
rs1276523526
CA368536827
353 Q>K No ClinGen
gnomAD
CA4384422
rs139516267
354 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384421
rs200805374
356 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384420
rs779561244
357 I>V No ClinGen
ExAC
gnomAD
rs919710348
CA163277064
358 D>G No ClinGen
gnomAD
CA4384418
rs750048626
358 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs778448822
CA4384417
359 S>N No ClinGen
ExAC
gnomAD
CA368536729
rs1478501834
359 S>R No ClinGen
TOPMed
TCGA novel 360 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4384416
rs756948432
360 H>Y No ClinGen
ExAC
rs1306803852
CA368536688
361 V>F No ClinGen
TOPMed
gnomAD
CA368536693
rs1306803852
361 V>I No ClinGen
TOPMed
gnomAD
CA368536663
rs1456685413
363 G>A No ClinGen
gnomAD
CA4384412
rs753151554
363 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368536665
rs753151554
363 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs1433321950
CA368536644
365 D>V No ClinGen
TOPMed
rs767595647
CA4384411
368 R>G No ClinGen
ExAC
rs759557651
CA4384410
368 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs942529635
CA163277021
370 T>I No ClinGen
TOPMed
gnomAD
rs1181470806
CA368536559
371 V>A No ClinGen
TOPMed
gnomAD
CA4384406
rs763337889
372 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs770439567
CA4384380
374 Q>L No ClinGen
ExAC
gnomAD
CA368536424
rs1390936558
375 R>* No ClinGen
gnomAD
CA4384379
rs368166440
375 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368536406
rs1355597327
376 P>S No ClinGen
TOPMed
rs755840897
CA4384377
377 P>R No ClinGen
ExAC
gnomAD
rs1378130594
CA368536385
377 P>S No ClinGen
gnomAD
CA163276900
rs1011724577
COSM1662616
378 E>K kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA368536207
rs1253476213
384 G>E No ClinGen
gnomAD
CA368536190
rs1199372438
385 D>G No ClinGen
gnomAD
CA368536134
rs1237087373
387 E>* No ClinGen
gnomAD
rs752129086
CA4384373
388 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA163276831
rs2686810
391 S>N No ClinGen
Ensembl
CA368536007
rs1367605632
392 S>N No ClinGen
gnomAD
CA368535881
rs140761835
394 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4384344
rs140761835
394 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748921886
CA4384345
394 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs762945239
CA4384343
395 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA4384342
rs762945239
395 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4384340
COSM3698049
rs769364186
397 P>L large_intestine Variant assessed as Somatic; 0.0001621 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4384341
rs772699164
397 P>S No ClinGen
ExAC
gnomAD
CA368535759
rs1322585764
398 A>V No ClinGen
gnomAD
CA368535758
rs1405657132
399 G>R No ClinGen
gnomAD
CA368535727
rs1562805727
400 E>V No ClinGen
Ensembl
CA368535694
rs1183574932
401 E>D No ClinGen
gnomAD
rs1456229949
CA368535707
401 E>K No ClinGen
gnomAD
CA368535699
rs1411997229
401 E>V No ClinGen
gnomAD
rs768851548
CA4384337
402 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA368535678
rs1471403594
402 R>W No ClinGen
TOPMed
gnomAD
rs747353792
CA4384336
403 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA4384335
rs530626700
403 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA368535662
rs747353792
403 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373208078
CA4384334
404 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384332
rs369763673
404 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369763673
CA4384333
404 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384330
rs150962857
405 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs757360489
CA4384331
405 P>S No ClinGen
ExAC
rs751351053
CA4384327
407 T>A No ClinGen
ExAC
gnomAD
CA368535552
rs1365394446
407 T>I No ClinGen
gnomAD
rs762823669
CA4384325
410 L>P No ClinGen
ExAC
gnomAD
rs1483787507
CA576713331
411 W>* No ClinGen
TOPMed
CA368535472
rs1562805671
411 W>* No ClinGen
Ensembl
CA368535441
rs1318156419
412 Q>* No ClinGen
gnomAD
CA163276648
rs764615072
414 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA4384323
rs764615072
414 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs201757672
COSM1256678
CA4384324
414 R>W oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA4384321
rs776051139
416 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4384322
rs761412341
416 R>W No ClinGen
ExAC
gnomAD
rs760466759
CA4384319
417 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs768321694
CA4384320
417 R>W No ClinGen
ExAC
gnomAD
CA4384317
rs772577478
418 Q>* No ClinGen
ExAC
gnomAD
rs1273024188
CA368535375
419 Q>* No ClinGen
gnomAD
CA368535307
rs1464569051
422 S>N No ClinGen
gnomAD
CA4384312
rs779503954
422 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA368535285
rs1310411318
423 G>E No ClinGen
gnomAD
CA4384310
rs770865237
423 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA4384308
rs777783218
424 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs749358816
CA4384309
424 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA368535272
rs777783218
424 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1433918466
CA368535257
425 W>* No ClinGen
gnomAD
rs752933880
CA368535264
425 W>* No ClinGen
ExAC
gnomAD
rs752933880
CA4384306
425 W>S No ClinGen
ExAC
gnomAD
CA4384305
rs779761204
426 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA368535250
rs1213559527
426 G>R No ClinGen
TOPMed
CA4384303
rs765196008
427 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA4384302
rs765196008
427 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs765196008
CA4384304
427 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4384300
rs753379286
428 P>L No ClinGen
ExAC
gnomAD
TCGA novel 429 R>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4384298
rs760345848
429 R>K No ClinGen
ExAC
gnomAD
rs1218005840
CA368535185
431 D>N No ClinGen
TOPMed
CA4384278
rs752347730
433 L>F No ClinGen
ExAC
gnomAD
rs1204234621
CA368534983
CA368534984
437 G>R No ClinGen
gnomAD
TCGA novel 438 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4384276
rs759179156
439 R>S No ClinGen
ExAC
gnomAD
CA368534924
rs1252077932
441 V>I No ClinGen
TOPMed
CA368534897
rs1320733921
443 G>R No ClinGen
TOPMed
gnomAD
rs867464703
CA163276548
445 A>D No ClinGen
Ensembl
rs542063588
CA4384272
446 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA368534836
rs1399585587
446 A>V No ClinGen
TOPMed
rs1374517050
CA368534828
COSM1082869
447 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1300205385
CA368534820
447 A>V No ClinGen
gnomAD
rs914538038
CA163276538
448 V>A No ClinGen
gnomAD
rs769820187
CA4384270
448 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1409782510
CA368534770
451 Q>E No ClinGen
gnomAD
rs574920929
CA4384268
451 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs959033026
CA163276533
453 M>K No ClinGen
TOPMed
gnomAD
rs959033026
CA163276535
453 M>T No ClinGen
TOPMed
gnomAD
rs1281746440
CA368534735
453 M>V No ClinGen
TOPMed
CA163276527
rs747251090
454 H>Q No ClinGen
ExAC
gnomAD
CA368534709
rs1313461826
454 H>R No ClinGen
TOPMed
rs768856972
CA4384267
454 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs199833602 455 N>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs776675060
CA4384249
456 G>C No ClinGen
ExAC
gnomAD
CA4384248
rs571081699
457 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA368533817
rs571081699
457 S>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199982219
CA163276479
458 P>S No ClinGen
1000Genomes
TOPMed
gnomAD
CA163276476
rs971763894
459 K>T No ClinGen
TOPMed
CA4384245
rs369601562
461 S>I No ClinGen
ESP
ExAC
gnomAD
CA4384246
rs369601562
461 S>N No ClinGen
ESP
ExAC
gnomAD
rs1024315912
CA163276473
461 S>R No ClinGen
TOPMed
CA368533715
rs369601562
461 S>T No ClinGen
ESP
ExAC
gnomAD
CA4384243
rs777749815
462 A>G No ClinGen
ExAC
gnomAD
rs749068908
CA4384244
462 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA368533683
rs749068908
462 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA368533655
rs1562805360
463 S>F No ClinGen
Ensembl
rs1304536664
CA368533591
465 A>V No ClinGen
TOPMed
gnomAD
rs769842767
CA4384242
466 G>R No ClinGen
ExAC
gnomAD
CA4384241
rs748110103
466 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs771979965
CA163276469
467 A>G No ClinGen
Ensembl
rs780784068
CA4384240
468 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1416820724
CA368533502
468 A>T No ClinGen
gnomAD
CA368533497
rs780784068
468 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA4384238
rs375173199
469 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4384239
rs375173199
COSM199493
469 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368533421
rs1395473923
472 G>R No ClinGen
gnomAD
CA368533405
rs1175269908
473 A>G No ClinGen
TOPMed
gnomAD
CA368533401
rs1175269908
473 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs750778260
CA368533389
474 P>H No ClinGen
ExAC
gnomAD
rs750778260
CA4384235
474 P>L No ClinGen
ExAC
gnomAD
CA163276460
rs370950472
475 A>T No ClinGen
ESP
gnomAD
CA368533362
rs1448246272
475 A>V No ClinGen
gnomAD
CA368533334
rs1253408021
476 P>L No ClinGen
TOPMed
gnomAD
CA4384230
rs569815074
477 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA4384229
rs764193242
478 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA368533269
rs760691766
479 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA4384228
rs760691766
479 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1269856915
CA368533251
479 A>V No ClinGen
TOPMed
gnomAD
CA4384226
rs775688687
481 Q>R No ClinGen
ExAC
gnomAD
rs772152865
CA4384225
482 E>D No ClinGen
ExAC
gnomAD
CA368533150
rs1314533379
COSM50564
483 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 485 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773084693
CA4384223
486 I>V No ClinGen
ExAC
gnomAD
rs1476149728
CA368533007
488 G>E No ClinGen
TOPMed
gnomAD
rs1476149728
CA368533002
488 G>V No ClinGen
TOPMed
gnomAD
rs529932552
CA4384221
489 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767650564
CA4384204
490 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1407858859
CA368532779
491 T>I No ClinGen
gnomAD
CA368532746
rs1159556813
492 A>V No ClinGen
gnomAD
CA4384201
rs765077735
493 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs76551586
CA4384202
493 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1054828804
CA163276409
494 A>V No ClinGen
TOPMed
CA368532658
rs1193243407
495 P>L No ClinGen
gnomAD
rs1255026072
CA368532644
496 R>L No ClinGen
TOPMed
gnomAD
CA368532649
rs1255026072
496 R>Q No ClinGen
TOPMed
gnomAD
CA4384200
rs761681238
496 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs952165220
CA163276404
497 P>Q No ClinGen
TOPMed
gnomAD
rs370077970
CA163276407
497 P>S No ClinGen
ESP
TOPMed
rs1310416965
CA368532617
498 L>F No ClinGen
TOPMed
gnomAD
rs745582986
CA163276399
499 G>D No ClinGen
Ensembl
CA163276401
rs937359122
499 G>S No ClinGen
TOPMed
gnomAD
CA368532551
rs776533200
500 S>C No ClinGen
ExAC
gnomAD
CA4384199
rs776533200
500 S>F No ClinGen
ExAC
gnomAD
rs768477550
CA4384198
501 I>S No ClinGen
ExAC
gnomAD
CA163276395
rs972522356
501 I>V No ClinGen
TOPMed
gnomAD
CA4384196
rs774801531
503 R>K No ClinGen
ExAC
gnomAD
rs1439965145
CA368532448
505 N>D No ClinGen
TOPMed
CA368532365
rs1318007149
508 L>F No ClinGen
gnomAD
CA4384194
rs745480050
510 R>C No ClinGen
ExAC
gnomAD
rs150672994
CA4384193
510 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA163276390
rs867804306
518 G>C No ClinGen
Ensembl
CA368531945
rs1367454288
518 G>D No ClinGen
TOPMed
CA368531921
rs200696855
519 P>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4384170
rs200696855
519 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4384171
rs541574425
519 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4384169
rs756533087
520 S>F No ClinGen
ExAC
gnomAD
rs748557159
CA4384168
521 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs755583792
CA368531831
523 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs1176406844
CA368531814
523 D>E No ClinGen
gnomAD
rs781759433
CA4384167
523 D>N No ClinGen
ExAC
gnomAD
CA4384166
rs755583792
523 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1234233622
CA368531794
524 S>F No ClinGen
gnomAD
rs1480777196
CA368531805
524 S>T No ClinGen
gnomAD
rs1218859743
CA368531768
526 L>V No ClinGen
gnomAD
rs141934676
CA368531738
527 R>I No ClinGen
ESP
ExAC
gnomAD
CA4384165
rs141934676
527 R>K No ClinGen
ESP
ExAC
gnomAD
TCGA novel 528 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA163276248
rs376994322
529 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs35432811
CA163276244
529 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs35432811
CA4384161
529 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384162
rs376994322
529 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759535697
CA4384157
530 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs759535697
CA4384158
530 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs752481510
CA4384160
530 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs577507745
CA163276241
531 Y>H No ClinGen
1000Genomes
rs1321922904
CA368531611
532 P>A No ClinGen
TOPMed
CA368531592
rs1300149499
532 P>L No ClinGen
gnomAD
CA368531567
rs1393846112
533 Q>H No ClinGen
gnomAD
TCGA novel 533 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA163276236
rs893654209
534 V>F No ClinGen
Ensembl
CA368531480
rs1349668117
536 D>G No ClinGen
TOPMed
rs770433035
CA368531406
538 K>R No ClinGen
ExAC
gnomAD
rs770433035
CA4384155
538 K>T No ClinGen
ExAC
gnomAD
CA4384154
rs372379699
539 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1348680156
CA368531331
541 M>V No ClinGen
TOPMed
CA4384153
rs141807671
545 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4384152
rs370008127
545 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368531250
rs370008127
545 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138668883
CA4384151
546 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA368531081
rs1375798224
548 L>F No ClinGen
TOPMed
gnomAD
CA368531083
rs1375798224
548 L>V No ClinGen
TOPMed
gnomAD
TCGA novel 549 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4384121
rs751406236
551 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs548519774
CA4384122
551 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4384118
rs376944603
554 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384119
rs758337211
554 R>W No ClinGen
ExAC
gnomAD
rs1186364680
CA368529845
555 P>A No ClinGen
gnomAD
rs761495195
CA4384116
556 L>P No ClinGen
ExAC
gnomAD
CA368529796
rs1250869585
557 P>L No ClinGen
gnomAD
CA368529738
rs1342400508
559 D>E No ClinGen
gnomAD
rs911722950
CA163275649
561 A>T No ClinGen
TOPMed
gnomAD
CA368529627
rs1222019356
562 E>D No ClinGen
Ensembl
CA368529641
rs1305391932
562 E>G No ClinGen
TOPMed
CA4384114
rs764501444
562 E>K Variant assessed as Somatic; 5.3e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1314471855
CA368529625
563 A>T No ClinGen
TOPMed
gnomAD
CA368529533
rs1395274844
565 A>P No ClinGen
TOPMed
gnomAD
rs1395274844
CA368529540
565 A>T No ClinGen
TOPMed
gnomAD
rs1168037952
CA368529421
567 G>E No ClinGen
gnomAD
CA4384113
rs199995742
570 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772626877
CA4384111
571 C>Y No ClinGen
ExAC
gnomAD
rs924224314
CA163275627
574 A>D No ClinGen
gnomAD
CA368529246
rs1190016273
574 A>T No ClinGen
gnomAD
rs924224314
CA368529230
574 A>V No ClinGen
gnomAD
rs774431576
CA4384109
575 N>D No ClinGen
ExAC
gnomAD
CA4384110
rs774431576
575 N>H No ClinGen
ExAC
gnomAD
rs749463016
CA4384107
576 Q>H No ClinGen
ExAC
gnomAD
rs770920180
CA4384108
576 Q>R No ClinGen
ExAC
gnomAD
rs953096811
CA163275623
577 L>I No ClinGen
TOPMed
rs897151194
CA368529151
578 R>L No ClinGen
TOPMed
gnomAD
rs897151194
CA163275618
578 R>Q No ClinGen
TOPMed
gnomAD
CA4384105
rs367912586
578 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746804965
CA4384104
579 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758301066
CA4384102
580 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs750336915
CA4384101
580 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4384098
rs753444990
582 V>M No ClinGen
ExAC
gnomAD
rs1419186655
CA368529082
584 F>L No ClinGen
gnomAD
TCGA novel 585 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763806094
CA4384097
586 H>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 588 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1182821672
CA368528967
591 A>T No ClinGen
gnomAD
rs1246980161
CA368528945
592 V>M No ClinGen
Ensembl
rs777481880
CA4384079
593 P>A No ClinGen
ExAC
gnomAD
rs777481880
CA368528811
593 P>S No ClinGen
ExAC
gnomAD
CA163275562
rs891784767
595 L>R No ClinGen
TOPMed
gnomAD
CA4384077
rs752295458
597 A>V No ClinGen
ExAC
gnomAD
CA368528642
rs1366487913
600 A>V No ClinGen
TOPMed
rs767882536
CA368528637
601 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1326321525
CA368528633
601 R>Q No ClinGen
gnomAD
rs767882536
CA4384076
601 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs751995918
CA4384074
606 S>G No ClinGen
ExAC
gnomAD
CA368528502
rs1173253233
606 S>R No ClinGen
gnomAD
CA4384073
rs766865065
607 F>L No ClinGen
ExAC
gnomAD
rs1427426579
CA368528468
609 E>K No ClinGen
gnomAD
rs763507534
CA4384072
610 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA368528429
rs1242656221
611 C>F No ClinGen
TOPMed
gnomAD
CA368528439
rs1407946784
611 C>R No ClinGen
TOPMed
rs375508989
CA4384071
612 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4384070
rs769864680
612 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4384068
rs776736804
613 K>E No ClinGen
ExAC
gnomAD
CA4384067
rs370210208
614 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1584402988
CA368528343
616 V>G No ClinGen
Ensembl
CA4384065
rs778837614
618 E>K No ClinGen
ExAC
TOPMed
rs3197597
VAR_051135
642 V>M No UniProt
dbSNP
rs748668021 644 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs757069747 647 G>A Variant assessed as Somatic; 4.982e-05 impact. [NCI-TCGA] No NCI-TCGA
rs763893611 649 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs377536480 663 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 669 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with O75427

8 regional properties for O75427

Type Name Position InterPro Accession
repeat Leucine-rich repeat 74 - 136 IPR001611-1
repeat Leucine-rich repeat 138 - 194 IPR001611-2
domain Calponin homology domain 534 - 647 IPR001715
repeat Leucine-rich repeat, typical subtype 90 - 112 IPR003591-1
repeat Leucine-rich repeat, typical subtype 113 - 136 IPR003591-2
repeat Leucine-rich repeat, typical subtype 158 - 180 IPR003591-3
repeat Leucine-rich repeat, typical subtype 181 - 204 IPR003591-4
repeat Leucine-rich repeat, typical subtype 226 - 249 IPR003591-5

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
PML body A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name Definition
negative regulation of DNA-templated transcription Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MAAAVAAPLA AGGEEAAATT SVPGSPGLPG RRSAERALEE AVATGTLNLS NRRLKHFPRG
70 80 90 100 110 120
AARSYDLSDI TQADLSRNRF PEVPEAACQL VSLEGLSLYH NCLRCLNPAL GNLTALTYLN
130 140 150 160 170 180
LSRNQLSLLP PYICQLPLRV LIVSNNKLGA LPPDIGTLGS LRQLDVSSNE LQSLPSELCG
190 200 210 220 230 240
LSSLRDLNVR RNQLSTLPEE LGDLPLVRLD FSCNRVSRIP VSFCRLRHLQ VILLDSNPLQ
250 260 270 280 290 300
SPPAQVCLKG KLHIFKYLST EAGQRGSALG DLAPSRPPSF SPCPAEDLFP GHRYDGGLDS
310 320 330 340 350 360
GFHSVDSGSK RWSGNESTDE FSELSFRISE LAREPRGPRE RKEDGSADGD PVQIDFIDSH
370 380 390 400 410 420
VPGEDEERGT VEEQRPPELS PGAGDRERAP SSRREEPAGE ERRRPDTLQL WQERERRQQQ
430 440 450 460 470 480
QSGAWGAPRK DSLLKPGLRA VVGGAAAVST QAMHNGSPKS SASQAGAAAG QGAPAPAPAS
490 500 510 520 530 540
QEPLPIAGPA TAPAPRPLGS IQRPNSFLFR SSSQSGSGPS SPDSVLRPRR YPQVPDEKDL
550 560 570 580 590 600
MTQLRQVLES RLQRPLPEDL AEALASGVIL CQLANQLRPR SVPFIHVPSP AVPKLSALKA
610 620 630 640 650 660
RKNVESFLEA CRKMGVPEAD LCSPSDLLQG TARGLRTALE AVKRVGGKAL PPLWPPSGLG
670 680
GFVVFYVVLM LLLYVTYTRL LGS