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 Q9H2S5

Entry ID Method Resolution Chain Position Source
AF-Q9H2S5-F1 Predicted AlphaFoldDB

724 variants for Q9H2S5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs141667762
CA3694525
2 W>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749932907 2 W>L No ExAC
gnomAD
CA3694526
rs141667762
2 W>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1277670420 3 W>C No gnomAD
rs963832883 3 W>R No gnomAD
CA3694524
rs201647756
3 W>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3694522
rs780946687
4 R>S No ClinGen
ExAC
gnomAD
rs767004865 4 R>T No ExAC
TOPMed
gnomAD
CA136038629
rs1047338734
5 D>K No ClinGen
Ensembl
rs761660186 5 D>V No ExAC
TOPMed
gnomAD
TCGA novel 5 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs139134806 6 L>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA363056794
rs1486309392
6 L>P No ClinGen
gnomAD
rs1464405012 6 L>W No gnomAD
rs540602936
CA136038624
7 T>C No ClinGen
1000Genomes
rs1170994142 7 T>M No gnomAD
rs771405664 7 T>P No Ensembl
rs567988738 9 L>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
gnomAD
NCI-TCGA
CA3694520
rs751097397
10 R>P No ClinGen
ExAC
gnomAD
rs1420788357 11 L>P No gnomAD
rs758342650
CA363056759
12 W>D No ClinGen
ExAC
TOPMed
gnomAD
rs762784854 12 W>R No ExAC
gnomAD
CA363056753
rs752561825
13 L>H No ClinGen
ExAC
gnomAD
CA3694516
rs752561825
13 L>L No ClinGen
ExAC
gnomAD
rs775231867 13 L>M No ExAC
gnomAD
rs1022590479 16 E>D No TOPMed
gnomAD
rs1180477509 16 E>Q No gnomAD
CA363056728
rs1385216323
17 A>P No ClinGen
gnomAD
rs765085043
CA3694515
18 I>E No ClinGen
ExAC
TOPMed
gnomAD
rs1360244380
CA363056716
19 P>M No ClinGen
gnomAD
rs1233829119 21 E>Q No gnomAD
rs115871178
CA3694513
21 E>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs975450356
CA136038566
21 E>T No ClinGen
Ensembl
rs1249020464 22 G>R No TOPMed
rs767824578
CA3694512
22 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1429132199
CA363056693
23 R>* No ClinGen
gnomAD
CA363056698
rs1281971383
23 R>R No ClinGen
TOPMed
rs1012634937 23 R>W No TOPMed
gnomAD
rs762087972
CA3694511
24 K>E No ClinGen
ExAC
gnomAD
rs912660448
CA136038553
24 K>W No ClinGen
TOPMed
gnomAD
rs1285001406
CA363056683
25 A>D No ClinGen
TOPMed
gnomAD
rs887516187 25 A>E No TOPMed
gnomAD
rs1257466320 25 A>S No TOPMed
gnomAD
rs987000229
CA136038541
25 A>S No ClinGen
TOPMed
gnomAD
rs887516187 25 A>V No TOPMed
gnomAD
rs747201531 26 A>S No ExAC
gnomAD
TCGA novel
CA3694510
rs774595724
26 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
CA3694509
rs768800898
26 A>Y No ClinGen
ExAC
gnomAD
rs1348367415 29 N>D No TOPMed
rs772126855 29 N>K No ExAC
gnomAD
rs1311541215
CA363056647
31 G>L No ClinGen
TOPMed
gnomAD
TCGA novel 31 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1582404811 32 V>A No Ensembl
rs981299845
CA136038502
33 G>P No ClinGen
TOPMed
CA363056628
rs1376404052
34 E>E No ClinGen
gnomAD
rs1444262687 34 E>K No gnomAD
rs372528926 35 K>N No ESP
ExAC
TOPMed
gnomAD
rs1397716133
CA363056623
35 K>Y No ClinGen
gnomAD
rs971296954
CA136038495
36 G>Q No ClinGen
TOPMed
rs967277640
CA136038483
37 I>L No ClinGen
gnomAD
CA363056605
rs1236185279
37 I>Q No ClinGen
TOPMed
rs1165905835 39 T>K No gnomAD
rs1432581051 40 A>E No TOPMed
CA363056587
rs1398230189
40 A>G No ClinGen
gnomAD
rs754295949 40 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
ExAC
gnomAD
rs1020613063
CA136038471
40 A>Y No ClinGen
gnomAD
rs780526477 41 S>N No ExAC
gnomAD
rs746853654
CA3694506
42 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs887477602
CA136038468
43 R>S No ClinGen
TOPMed
CA363056554
rs1462966729
45 G>D No ClinGen
TOPMed
gnomAD
rs755745783 45 G>S No ExAC
gnomAD
rs531494342 46 P>Q No 1000Genomes
ExAC
gnomAD
rs1332151590
CA363056546
47 P>G No ClinGen
TOPMed
CA363056544
rs1439082070
47 P>H No ClinGen
TOPMed
gnomAD
rs892841089 47 P>L No TOPMed
rs1332151590
CA363056547
47 P>S No ClinGen
TOPMed
rs1306804072
CA363056534
48 S>C No ClinGen
TOPMed
rs767070867 49 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
ExAC
gnomAD
CA136038444
rs990095171
49 A>W No ClinGen
gnomAD
rs761442939 50 R>P No ExAC
gnomAD
CA363056516
rs1477603643
51 S>L No ClinGen
gnomAD
TCGA novel 51 S>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1188385447
CA363056510
52 K>L No ClinGen
gnomAD
rs1561989248 52 K>M No Ensembl
rs866333396 52 K>N No Ensembl
rs1214391472 53 A>T No gnomAD
rs200295803 55 T>M No 1000Genomes
ExAC
gnomAD
CA136038413
rs1001215432
55 T>S No ClinGen
TOPMed
gnomAD
rs1163139815 55 T>S No TOPMed
gnomAD
CA363056487
rs1199756830
56 V>I No ClinGen
gnomAD
CA363056488
rs1199756830
56 V>S No ClinGen
gnomAD
rs1340039128
CA363056486
57 V>K No ClinGen
gnomAD
rs1216320347
CA363056476
58 A>D No ClinGen
gnomAD
rs770176290
CA3694505
58 A>T No ClinGen
ExAC
gnomAD
rs1307412870 59 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
NCI-TCGA
CA363056468
rs1316918185
59 E>F No ClinGen
gnomAD
rs906915243
CA136038405
60 G>A No ClinGen
Ensembl
CA363056457
rs1246555135
61 A>I No ClinGen
TOPMed
gnomAD
rs775281694 61 A>P No ExAC
gnomAD
CA363056462
rs1340465544
61 A>P No ClinGen
Ensembl
rs375563136 62 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773552564 63 S>C No ExAC
TOPMed
gnomAD
rs1187015845 64 R>K No TOPMed
CA363056430
rs1392447053
65 S>* No ClinGen
gnomAD
rs772173202 65 S>Y No ExAC
gnomAD
rs1047288924
TCGA novel
CA136038388
66 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
gnomAD
CA363056424
rs1403143791
66 W>Y No ClinGen
gnomAD
rs779105941 67 L>I No ExAC
gnomAD
CA363056421
rs1465228302
67 L>S No ClinGen
gnomAD
rs1165157971
CA363056412
68 S>P No ClinGen
gnomAD
rs1418670266
CA363056414
68 S>V No ClinGen
gnomAD
CA136038383
rs868558387
69 M>S No ClinGen
Ensembl
rs201484849 69 M>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3694500
rs777266493
70 D>F No ClinGen
ExAC
gnomAD
rs141667762 70 D>H No ESP
ExAC
TOPMed
gnomAD
rs141667762 70 D>N No ESP
ExAC
TOPMed
gnomAD
CA3694499
rs558873043
71 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201647756 71 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs752193862
CA3694498
72 P>C No ClinGen
ExAC
gnomAD
rs780946687 72 P>S No ExAC
gnomAD
rs1047338734 73 E>K No Ensembl
CA3694497
rs765271457
74 L>N No ClinGen
ExAC
TOPMed
gnomAD
rs1486309392 74 L>P No gnomAD
rs540602936 75 G>C No 1000Genomes
rs1196683612
CA363056373
75 G>Q No ClinGen
gnomAD
CA3694496
rs754844953
76 P>S No ClinGen
ExAC
gnomAD
rs751097397 78 L>P No ExAC
gnomAD
rs758342650 80 E>D No ExAC
TOPMed
gnomAD
rs1240277314
CA363056342
80 E>Q No ClinGen
gnomAD
rs753699803
CA363056343
80 E>W No ClinGen
ExAC
gnomAD
rs752561825 81 R>H No ExAC
gnomAD
rs752561825 81 R>L No ExAC
gnomAD
rs762141311
CA3694494
81 R>Q No ClinGen
ExAC
gnomAD
CA3694493
rs762141311
81 R>R No ClinGen
ExAC
gnomAD
rs1446711716
CA363056332
82 L>G No ClinGen
gnomAD
CA363056336
rs1307625673
82 L>T No ClinGen
gnomAD
rs77391493
CA3694492
83 E>E No ClinGen
ExAC
gnomAD
rs77391493
CA136038343
83 E>G No ClinGen
ExAC
gnomAD
CA136038338
rs946689450
84 Q>Q No ClinGen
TOPMed
gnomAD
CA3694491
rs764397171
85 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1385216323 85 L>P No gnomAD
rs538878624
CA3694490
86 A>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765085043 86 A>E No ExAC
TOPMed
gnomAD
rs1162429724
CA363056312
86 A>P No ClinGen
gnomAD
rs1360244380 87 T>M No gnomAD
rs942723865
CA136038312
89 P>C No ClinGen
Ensembl
rs115871178 89 P>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs975450356 89 P>T No Ensembl
rs767824578 90 L>R No ExAC
TOPMed
gnomAD
rs1429132199 91 C>* No gnomAD
rs1281971383 91 C>R No TOPMed
CA363056276
rs1176652437
92 G>* No ClinGen
gnomAD
rs762087972 92 G>E No ExAC
gnomAD
rs912660448 92 G>W No TOPMed
gnomAD
rs1285001406 93 G>D No TOPMed
gnomAD
rs749535327
CA136038300
93 G>Q No ClinGen
gnomAD
rs987000229 93 G>S No TOPMed
gnomAD
CA363056265
rs1439045942
94 S>Q No ClinGen
TOPMed
gnomAD
CA136038280
rs912637131
94 S>R No ClinGen
TOPMed
rs774595724 94 S>T No ExAC
gnomAD
rs768800898 94 S>Y No ExAC
gnomAD
CA136038265
rs1052918327
96 E>V No ClinGen
TOPMed
gnomAD
CA363056244
rs1288782161
97 D>A No ClinGen
gnomAD
rs1449497448
CA363056248
97 D>K No ClinGen
gnomAD
CA363056247
rs1449497448
97 D>Q No ClinGen
gnomAD
rs1311541215 99 V>L No TOPMed
gnomAD
rs770364540
CA3694487
100 L>V No ClinGen
ExAC
gnomAD
rs746308698
CA3694486
101 L>G No ClinGen
ExAC
TOPMed
gnomAD
rs1372426396
CA363056221
101 L>H No ClinGen
gnomAD
rs981299845 101 L>P No TOPMed
rs746308698
CA363056222
101 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs1376404052 102 A>E No gnomAD
CA3694484
rs771216014
103 C>E No ClinGen
ExAC
TOPMed
gnomAD
rs1434488225
CA363056210
103 C>W No ClinGen
gnomAD
rs1397716133 103 C>Y No gnomAD
rs971296954 104 E>Q No TOPMed
rs967277640 105 H>L No gnomAD
rs1236185279 105 H>Q No TOPMed
CA363056193
rs1362178494
106 S>* No ClinGen
gnomAD
CA136038477
rs1022916676
106 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
rs758025828
CA3694481
107 F>A No ClinGen
ExAC
TOPMed
gnomAD
rs981234297
CA136038233
107 F>R No ClinGen
TOPMed
gnomAD
rs758025828
CA363056186
107 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs1398230189 108 C>G No gnomAD
rs1476715144
CA363056184
108 C>R No ClinGen
gnomAD
CA3694480
rs747738150
108 C>V No ClinGen
ExAC
gnomAD
rs1020613063 108 C>Y No gnomAD
rs201745062
CA136038219
109 R>H No ClinGen
Ensembl
rs746853654 110 A>T No ExAC
TOPMed
gnomAD
rs754965997
CA363056168
111 C>A No ClinGen
ExAC
TOPMed
gnomAD
rs887477602 111 C>S No TOPMed
CA3694478
rs754965997
111 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs1196566540
CA363056158
112 L>I No ClinGen
TOPMed
rs1451187882
CA363056163
112 L>P No ClinGen
TOPMed
rs1462966729 113 A>D No TOPMed
gnomAD
rs1249652665
CA363056149
113 A>I No ClinGen
TOPMed
CA363056152
rs1216419977
113 A>K No ClinGen
gnomAD
CA136038201
rs753660371
114 R>C No ClinGen
ExAC
gnomAD
CA3694477
rs753660371
114 R>S No ClinGen
ExAC
gnomAD
rs1332151590 115 R>G No TOPMed
rs1439082070 115 R>H No TOPMed
gnomAD
rs1332151590 115 R>S No TOPMed
rs1306804072 116 W>C No TOPMed
CA3694476
rs780002534
116 W>P No ClinGen
ExAC
gnomAD
rs990095171 117 G>W No gnomAD
CA3694475
rs377243892
118 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1477603643 119 P>L No gnomAD
CA3694474
rs750219698
119 P>R No ClinGen
ExAC
gnomAD
rs1188385447 120 P>L No gnomAD
rs764450187
CA3694473
120 P>R No ClinGen
ExAC
gnomAD
rs767986875
CA3694461
122 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA136037254
CA363055656
rs867006094
123 G>I No ClinGen
Ensembl
rs1001215432 123 G>S No TOPMed
gnomAD
rs1199756830 124 T>I No gnomAD
CA3694460
rs748828127
124 T>K No ClinGen
ExAC
gnomAD
rs1199756830 124 T>S No gnomAD
rs1340039128 125 E>K No gnomAD
rs1216320347 126 A>D No gnomAD
rs770176290 126 A>T No ExAC
gnomAD
CA3694459
rs780187420
127 S>* No ClinGen
ExAC
gnomAD
rs756085027
CA3694458
127 S>* No ClinGen
ExAC
TOPMed
rs1316918185 127 S>F No gnomAD
CA136037242
rs1042141910
127 S>R No ClinGen
TOPMed
rs906915243 128 P>A No Ensembl
CA3694457
rs370999065
129 T>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1246555135 129 T>I No TOPMed
gnomAD
rs1340465544 129 T>P No Ensembl
CA363055587
rs781084466
129 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA3694456
rs781084466
129 T>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1458077833
CA363055530
130 A>L No ClinGen
gnomAD
TCGA novel
CA3694436
rs781135384
130 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
rs1392447053 133 C>* No gnomAD
CA363055492
rs1163113633
133 C>L No ClinGen
gnomAD
rs1047288924 134 C>* No TOPMed
gnomAD
rs757062595
CA3694434
134 C>I No ClinGen
ExAC
gnomAD
rs1403143791 134 C>Y No gnomAD
rs2074479
CA363055478
135 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2074479
CA3694433
135 G>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1465228302 135 G>S No gnomAD
rs1165157971 136 L>P No gnomAD
rs1418670266 136 L>V No gnomAD
rs868558387 137 P>S No Ensembl
rs777266493 138 C>F No ExAC
gnomAD
CA363055445
rs1180994911
138 C>P No ClinGen
gnomAD
CA3694432
rs779049891
139 P>K No ClinGen
ExAC
gnomAD
rs558873043 139 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs752193862 140 R>C No ExAC
gnomAD
rs755198768
CA3694431
142 S>G No ClinGen
ExAC
gnomAD
rs765271457 142 S>N No ExAC
TOPMed
gnomAD
rs753952630
CA363055380
143 L>H No ClinGen
ExAC
gnomAD
rs753952630
CA3694430
143 L>N No ClinGen
ExAC
gnomAD
rs1196683612 143 L>Q No gnomAD
CA3694429
rs766400479
144 R>F No ClinGen
ExAC
gnomAD
CA3694428
rs756631873
144 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs754844953 144 R>S No ExAC
gnomAD
CA363055351
rs1337100991
145 S>L No ClinGen
TOPMed
CA3694427
rs750863703
145 S>S No ClinGen
ExAC
TOPMed
gnomAD
CA3694425
rs377456133
147 V>H No ClinGen
ExAC
TOPMed
gnomAD
rs1353865256
CA363056348
147 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
CA136037012
rs377456133
147 V>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1260970723 148 R>* No gnomAD
rs374504156
CA3694422
148 R>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763683980
CA3694423
148 R>H No ClinGen
ExAC
gnomAD
rs1240277314 148 R>Q No gnomAD
rs753699803 148 R>W No ExAC
gnomAD
rs762141311 149 L>Q No ExAC
gnomAD
rs762141311 149 L>R No ExAC
gnomAD
rs1446711716 150 A>G No gnomAD
rs1307625673 150 A>T No gnomAD
rs77391493 151 V>E No ExAC
gnomAD
rs77391493 151 V>G No ExAC
gnomAD
CA3694421
rs375274560
151 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs946689450 152 E>Q No TOPMed
gnomAD
rs764397171 153 V>M No ExAC
TOPMed
gnomAD
rs538878624 154 R>* No 1000Genomes
ExAC
TOPMed
gnomAD
CA3694419
rs769358974
154 R>I No ClinGen
ExAC
gnomAD
rs1162429724 154 R>P No gnomAD
CA363055241
rs1348724213
154 R>T No ClinGen
TOPMed
rs1361526154
CA363055230
155 I>F No ClinGen
gnomAD
rs1278532356
CA363055223
156 S>Y No ClinGen
TOPMed
rs942723865 157 R>C No Ensembl
rs1418384302
CA363055207
157 R>G No ClinGen
gnomAD
CA363055181
rs1205014116
159 L>R No ClinGen
TOPMed
rs1176652437 160 R>* No gnomAD
rs1232073323
CA363055174
160 R>P No ClinGen
TOPMed
TCGA novel 161 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs981571704
CA136036142
161 E>N No ClinGen
Ensembl
rs749535327 161 E>Q No gnomAD
rs1173621880
CA363054656
162 K>P No ClinGen
gnomAD
rs1439045942 162 K>Q No TOPMed
gnomAD
rs912637131 162 K>R No TOPMed
rs1052918327 164 A>V No TOPMed
gnomAD
rs1288782161 165 E>A No gnomAD
rs1449497448 165 E>K No gnomAD
rs1449497448 165 E>Q No gnomAD
rs1475519468
CA363054634
166 P>A No ClinGen
TOPMed
rs770364540 168 A>V No ExAC
gnomAD
rs746308698 169 R>G No ExAC
TOPMed
gnomAD
rs1372426396 169 R>H No gnomAD
rs746308698 169 R>S No ExAC
TOPMed
gnomAD
CA136036122
rs372233460
169 R>T No ClinGen
ESP
gnomAD
rs771216014 171 G>E No ExAC
TOPMed
gnomAD
rs1434488225 171 G>W No gnomAD
CA136036120
rs962217611
172 R>L No ClinGen
TOPMed
rs1191788222
CA363054589
173 R>R No ClinGen
gnomAD
rs1362178494 174 R>* No gnomAD
rs1487150697
CA363054585
174 R>H No ClinGen
TOPMed
gnomAD
rs758025828 175 G>A No ExAC
TOPMed
gnomAD
CA136036119
rs1015115621
175 G>F No ClinGen
Ensembl
rs981234297 175 G>R No TOPMed
gnomAD
rs758025828 175 G>V No ExAC
TOPMed
gnomAD
rs1476715144 176 G>R No gnomAD
rs747738150 176 G>V No ExAC
gnomAD
rs201745062 177 R>H No Ensembl
CA3694401
rs2301752
177 R>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs909569391
CA363054564
178 I>H No ClinGen
TOPMed
gnomAD
rs909569391
CA363054565
178 I>N No ClinGen
TOPMed
gnomAD
CA136036103
rs909569391
178 I>Y No ClinGen
TOPMed
gnomAD
rs754965997 179 P>A No ExAC
TOPMed
gnomAD
CA363054557
rs1222432784
179 P>G No ClinGen
TOPMed
gnomAD
rs754965997 179 P>S No ExAC
TOPMed
gnomAD
CA136036102
rs982486887
180 T>C No ClinGen
TOPMed
gnomAD
rs1196566540 180 T>I No TOPMed
rs1451187882 180 T>P No TOPMed
rs1249652665 181 M>I No TOPMed
rs1216419977 181 M>K No gnomAD
rs1326175460
CA363054544
181 M>N No ClinGen
gnomAD
rs1216436797
CA363054547
181 M>R No ClinGen
gnomAD
rs753660371 182 G>C No ExAC
gnomAD
CA3694399
CA363054539
rs776173276
182 G>L No ClinGen
ExAC
TOPMed
gnomAD
rs753660371 182 G>S No ExAC
gnomAD
CA363054527
rs1355546468
184 L>M No ClinGen
TOPMed
rs780002534 184 L>P No ExAC
gnomAD
CA363054524
rs1285720529
184 L>P No ClinGen
TOPMed
CA363054523
rs1285720529
184 L>R No ClinGen
TOPMed
CA3694398
rs770807766
185 D>D No ClinGen
ExAC
gnomAD
rs377243892 186 L>P No ESP
ExAC
TOPMed
gnomAD
CA363054517
rs1336162105
186 L>T No ClinGen
gnomAD
rs750219698 187 P>R No ExAC
gnomAD
rs764450187 188 G>R No ExAC
gnomAD
rs746919022
CA3694397
188 G>R No ClinGen
ExAC
gnomAD
CA363054495
rs1425886109
189 E>M No ClinGen
gnomAD
TCGA novel 190 D>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767986875 190 D>N No ExAC
TOPMed
gnomAD
rs1168727639
CA363054492
190 D>S No ClinGen
gnomAD
rs867006094 191 M>I No Ensembl
rs772899896
CA3694396
191 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA3694394
rs61754472
192 R>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA363054480
rs1425469785
192 R>H No ClinGen
gnomAD
rs748828127 192 R>K No ExAC
gnomAD
CA363054483
rs61754472
192 R>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA363054475
rs1254077754
193 K>H No ClinGen
gnomAD
CA136036088
rs964583031
194 T>E No ClinGen
TOPMed
rs756085027 195 W>* No ExAC
TOPMed
rs780187420 195 W>* No ExAC
gnomAD
CA3694393
rs11753382
195 W>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1042141910 195 W>R No TOPMed
rs370999065 197 R>* No ESP
ExAC
TOPMed
gnomAD
rs781084466 197 R>P No ExAC
TOPMed
gnomAD
rs781084466 197 R>Q No ExAC
TOPMed
gnomAD
rs1259466938
CA363054451
197 R>R No ClinGen
TOPMed
gnomAD
rs769983175
CA3694392
198 F>H No ClinGen
ExAC
rs1458077833 198 F>L No gnomAD
rs781135384 198 F>S No ExAC
gnomAD
CA3694391
rs1057539
200 V>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA363054433
rs1057539
200 V>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1163113633 201 P>L No gnomAD
rs757062595 202 T>I No ExAC
gnomAD
rs2074479 203 S>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2074479
VAR_022723
203 S>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
UniProt
dbSNP
rs2074479 203 S>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA136036077
rs1040517177
203 S>T No ClinGen
gnomAD
CA136036066
rs571062694
205 S>L No ClinGen
1000Genomes
ExAC
gnomAD
rs571062694
CA3694389
205 S>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1180994911 206 S>P No gnomAD
CA363054389
rs1448191573
207 N>D No ClinGen
gnomAD
rs779049891 207 N>K No ExAC
gnomAD
CA363054392
rs1416456789
207 N>R No ClinGen
TOPMed
rs1227404831
CA363054383
208 S>E No ClinGen
gnomAD
CA363054386
rs1313117800
208 S>T No ClinGen
TOPMed
CA363054376
rs1402495112
209 E>R No ClinGen
gnomAD
rs755198768 210 D>G No ExAC
gnomAD
rs753952630 211 D>H No ExAC
gnomAD
rs753952630 211 D>N No ExAC
gnomAD
CA363054355
rs1409582667
212 L>E No ClinGen
gnomAD
rs766400479 212 L>F No ExAC
gnomAD
rs756631873 212 L>P No ExAC
TOPMed
gnomAD
CA363054356
rs1329436569
212 L>W No ClinGen
gnomAD
rs1337100991 213 P>L No TOPMed
rs750863703 213 P>S No ExAC
TOPMed
gnomAD
CA363054351
rs1242542797
213 P>T No ClinGen
TOPMed
rs778134042
CA3694386
214 E>R No ClinGen
ExAC
gnomAD
CA363054346
rs778134042
214 E>S No ClinGen
ExAC
gnomAD
rs377456133 215 D>H No ExAC
TOPMed
gnomAD
rs377456133 215 D>Y No ExAC
TOPMed
gnomAD
rs1260970723 216 Y>* No gnomAD
rs374504156 216 Y>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs763683980 216 Y>H No ExAC
gnomAD
rs758887756
CA3694385
217 P>R No ClinGen
ExAC
gnomAD
CA363054325
rs1440283711
217 P>Y No ClinGen
gnomAD
rs375274560 219 V>I No ESP
ExAC
TOPMed
gnomAD
rs1239446812
CA363054311
219 V>K No ClinGen
gnomAD
CA363054303
rs1176308626
220 K>M No ClinGen
gnomAD
rs769358974 222 M>I No ExAC
gnomAD
rs754826025 222 M>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA363054289
rs1436860209
222 M>P No ClinGen
gnomAD
rs1348724213 222 M>T No TOPMed
rs1361526154 223 L>F No gnomAD
TCGA novel 223 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1010227717
CA136036040
223 L>V No ClinGen
TOPMed
gnomAD
rs1278532356 224 H>Y No TOPMed
rs1418384302 225 R>G No gnomAD
rs765018847
CA3694383
225 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA136036026
rs1003366347
226 L>S No ClinGen
TOPMed
rs1291537691
CA363054258
227 T>F No ClinGen
TOPMed
gnomAD
rs1205014116 227 T>R No TOPMed
rs1232073323 228 A>P No TOPMed
rs1241464673
CA363054247
229 D>G No ClinGen
TOPMed
gnomAD
rs981571704 229 D>N No Ensembl
rs1173621880 230 L>P No gnomAD
CA136036019
rs528186943
230 L>V No ClinGen
1000Genomes
TOPMed
rs1441650291
CA363054221
233 D>R No ClinGen
gnomAD
rs1475519468 234 P>A No TOPMed
CA3694380
rs2301753
236 T>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1393819127
CA363054194
237 A>N No ClinGen
gnomAD
rs372233460 237 A>T No ESP
gnomAD
CA363054186
rs1385343361
238 H>N No ClinGen
gnomAD
CA363054175
rs1378738932
239 R>G No ClinGen
TOPMed
CA363054178
rs916490850
239 R>K No ClinGen
TOPMed
gnomAD
rs916490850
CA136036000
239 R>Q No ClinGen
TOPMed
gnomAD
TCGA novel 240 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363054171
rs1420219395
240 R>K No ClinGen
gnomAD
rs962217611 240 R>L No TOPMed
rs1191788222 241 L>R No gnomAD
rs1487150697 242 L>H No TOPMed
gnomAD
CA363054152
rs1387953744
242 L>R No ClinGen
Ensembl
CA363054153
rs1382171859
242 L>Y No ClinGen
gnomAD
rs1156751932
CA363054143
243 I>C No ClinGen
gnomAD
rs1015115621 243 I>F No Ensembl
rs1469135007
CA363054138
244 S>T No ClinGen
TOPMed
gnomAD
rs2301752 245 A>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_022724
rs2301752
245 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
UniProt
dbSNP
rs1331620721
CA363054124
246 D>D No ClinGen
gnomAD
rs909569391 246 D>H No TOPMed
gnomAD
rs909569391 246 D>N No TOPMed
gnomAD
rs528904872
CA136035985
246 D>S No ClinGen
1000Genomes
TOPMed
gnomAD
rs909569391 246 D>Y No TOPMed
gnomAD
rs1222432784 247 R>G No TOPMed
gnomAD
rs982486887 248 R>C No TOPMed
gnomAD
CA363054549
rs1279636328
248 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
CA363054108
rs1268594413
249 S>A No ClinGen
gnomAD
rs1326175460 249 S>N No gnomAD
rs1216436797 249 S>R No gnomAD
CA136035966
rs773266930
249 S>W No ClinGen
ExAC
gnomAD
CA3694400
rs776173276
250 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1356456758
CA363054106
250 V>K No ClinGen
gnomAD
rs776173276 250 V>L No ExAC
TOPMed
gnomAD
rs771984650
CA3694376
250 V>V No ClinGen
ExAC
gnomAD
rs1355546468 252 L>M No TOPMed
rs1285720529 252 L>P No TOPMed
rs1285720529 252 L>R No TOPMed
rs770807766 253 A>D No ExAC
gnomAD
rs1345760192
CA363054077
254 P>C No ClinGen
gnomAD
rs1445455887
CA363054074
254 P>L No ClinGen
TOPMed
rs1445455887
CA363054075
254 P>P No ClinGen
TOPMed
rs1336162105 254 P>T No gnomAD
CA363054071
rs1276727867
255 P>* No ClinGen
gnomAD
rs774104086
CA3694374
256 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs746919022 256 G>R No ExAC
gnomAD
CA363054053
rs746043640
257 T>* No ClinGen
ExAC
TOPMed
gnomAD
rs1425886109 257 T>M No gnomAD
rs376524967
CA363053610
258 P>G No ClinGen
ESP
TOPMed
gnomAD
rs1168727639 258 P>S No gnomAD
rs376524967
CA136035651
258 P>V No ClinGen
ESP
TOPMed
gnomAD
rs772899896 259 A>T No ExAC
TOPMed
gnomAD
rs61754472 260 P>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1238839228
CA363053593
260 P>C No ClinGen
gnomAD
rs1425469785 260 P>H No gnomAD
rs61754472 260 P>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1254077754 261 P>H No gnomAD
rs764001778
CA3694336
261 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs964583031 262 D>E No TOPMed
rs1358193765
CA363053569
262 D>P No ClinGen
TOPMed
gnomAD
rs11753382 263 G>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1169664996
CA363054020
263 G>T No ClinGen
gnomAD
rs1487524808
CA363053553
264 P>K No ClinGen
TOPMed
CA136035621
rs867373109
265 K>H No ClinGen
gnomAD
rs1259466938 265 K>R No TOPMed
gnomAD
rs769983175 266 R>H No ExAC
CA363054002
rs1479243129
266 R>M No ClinGen
gnomAD
rs1057539 268 D>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1057539
VAR_022725
268 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
UniProt
dbSNP
rs1057539 268 D>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758940176
CA3694365
269 Q>M No ClinGen
ExAC
gnomAD
rs9261293
CA3694364
270 L>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1040517177 271 P>T No gnomAD
rs779373840
CA3694363
273 V>C No ClinGen
ExAC
rs571062694 273 V>L No 1000Genomes
ExAC
gnomAD
rs571062694 273 V>M No 1000Genomes
ExAC
gnomAD
rs1191236977
CA363053435
273 V>Y No ClinGen
TOPMed
rs1448191573 275 G>D No gnomAD
CA363053403
rs1297200720
275 G>R No ClinGen
TOPMed
gnomAD
rs1416456789 275 G>R No TOPMed
rs1227404831 276 A>E No gnomAD
rs769025458
CA3694327
276 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1313117800 276 A>T No TOPMed
rs1402495112 277 Q>R No gnomAD
CA363053382
rs1351956716
277 Q>V No ClinGen
gnomAD
rs753467188
CA3694360
278 G>T No ClinGen
ExAC
gnomAD
CA3694359
rs765948440
278 G>V No ClinGen
ExAC
CA363053915
rs1279013564
280 G>A No ClinGen
gnomAD
rs1409582667 280 G>E No gnomAD
rs1220722903
CA363053911
280 G>M No ClinGen
gnomAD
rs1329436569 280 G>W No gnomAD
rs1242542797 281 A>T No TOPMed
rs1177060062
CA363053899
282 G>L No ClinGen
TOPMed
CA3694322
rs369294101
CA3694323
282 G>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778134042 282 G>R No ExAC
gnomAD
rs1177060062
CA363053900
282 G>R No ClinGen
TOPMed
rs778134042 282 G>S No ExAC
gnomAD
rs577656142
CA3694321
283 R>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA136035825
rs922357572
283 R>K No ClinGen
TOPMed
rs577656142
CA363053324
283 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749879814
CA363053882
285 C>I No ClinGen
ExAC
TOPMed
gnomAD
rs749879814
CA3694357
285 C>N No ClinGen
ExAC
TOPMed
gnomAD
rs533103241
CA136035822
285 C>P No ClinGen
1000Genomes
rs758887756 285 C>R No ExAC
gnomAD
rs1440283711 285 C>Y No gnomAD
rs1239446812 287 E>K No gnomAD
CA363053273
rs1220065265
287 E>S No ClinGen
gnomAD
rs1242540383
CA363053875
287 E>V No ClinGen
TOPMed
gnomAD
rs1229428218
CA363053267
287 E>W No ClinGen
TOPMed
rs1176308626 288 V>M No gnomAD
CA363053866
rs1179559226
288 V>V No ClinGen
TOPMed
gnomAD
CA363053862
rs1429905652
289 E>A No ClinGen
gnomAD
rs1436860209 290 T>P No gnomAD
rs761687873
CA3694355
291 A>* No ClinGen
ExAC
TOPMed
gnomAD
rs200705517
CA3694354
291 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761687873
CA3694356
291 A>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1010227717 291 A>V No TOPMed
gnomAD
CA363053848
rs540860670
292 D>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3694351
rs776965364
292 D>L No ClinGen
ExAC
gnomAD
TCGA novel 292 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs540860670
CA3694352
292 D>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs911397745
CA136035789
293 A>L No ClinGen
TOPMed
gnomAD
rs765018847 293 A>P No ExAC
TOPMed
gnomAD
rs911397745
CA363053841
293 A>Q No ClinGen
TOPMed
gnomAD
rs765018847
CA136036029
293 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1003366347 294 A>S No TOPMed
rs1291537691 295 S>F No TOPMed
gnomAD
rs747150346
CA3694349
296 C>S No ClinGen
ExAC
gnomAD
rs1241464673 297 R>G No TOPMed
gnomAD
CA363053813
rs773383627
298 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA3694348
rs773383627
298 D>L No ClinGen
ExAC
TOPMed
gnomAD
rs528186943 298 D>V No 1000Genomes
TOPMed
rs1441650291 301 G>R No gnomAD
rs1191830405
CA363053782
303 D>G No ClinGen
TOPMed
rs1191830405
CA363053784
303 D>R No ClinGen
TOPMed
rs1200722313
CA363053773
304 A>* No ClinGen
TOPMed
gnomAD
rs2301753 304 A>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1561979924
CA363053770
304 A>A No ClinGen
Ensembl
rs1325710504 304 A>D No gnomAD
VAR_022726
rs2301753
304 A>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
UniProt
dbSNP
rs139005614
CA3694346
305 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1393819127 305 D>N No gnomAD
CA3694345
rs779425781
305 D>P No ClinGen
ExAC
gnomAD
rs139005614
CA363053767
305 D>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1385343361 306 D>N No gnomAD
rs1378738932 307 E>G No TOPMed
CA363053755
rs1561979878
307 E>H No ClinGen
Ensembl
rs916490850 307 E>K No TOPMed
gnomAD
rs916490850 307 E>Q No TOPMed
gnomAD
rs1420219395 308 E>K No gnomAD
CA363053751
rs1379625838
308 E>L No ClinGen
TOPMed
gnomAD
rs1379625838
CA363053752
308 E>M No ClinGen
TOPMed
gnomAD
rs996183104
CA136035731
309 S>T No ClinGen
Ensembl
rs1387953744 310 H>R No Ensembl
rs1382171859 310 H>Y No gnomAD
rs1156751932 311 Y>C No gnomAD
CA363053724
rs1464851220
312 A>H No ClinGen
TOPMed
rs1469135007 312 A>T No TOPMed
gnomAD
CA363053723
rs1464851220
312 A>Y No ClinGen
TOPMed
CA363053713
rs1396583723
313 V>D No ClinGen
TOPMed
rs370735380
CA3694343
313 V>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1331620721 314 G>D No gnomAD
rs528904872 314 G>S No 1000Genomes
TOPMed
gnomAD
rs755694474
CA136035677
316 A>F No ClinGen
ExAC
TOPMed
gnomAD
CA3694341
rs755694474
316 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA136035660
rs904988206
317 G>A No ClinGen
TOPMed
rs1268594413 317 G>A No gnomAD
rs773266930
CA3694377
317 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs773266930 317 G>W No ExAC
gnomAD
rs1356456758 318 E>K No gnomAD
rs771984650 318 E>V No ExAC
gnomAD
rs1345760192 322 R>C No gnomAD
rs1445455887 322 R>L No TOPMed
CA3694338
rs762180592
322 R>L No ClinGen
ExAC
gnomAD
rs1445455887 322 R>P No TOPMed
rs1276727867 323 K>* No gnomAD
rs774104086 324 G>D No ExAC
TOPMed
gnomAD
rs746043640 325 C>* No ExAC
TOPMed
gnomAD
rs376524967 326 V>G No ESP
TOPMed
gnomAD
rs376524967 326 V>V No ESP
TOPMed
gnomAD
TCGA novel 327 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1238839228 328 L>C No gnomAD
rs764001778 329 C>H No ExAC
TOPMed
gnomAD
rs1358193765 330 P>P No TOPMed
gnomAD
rs1169664996 331 A>T No gnomAD
rs1487524808 332 G>K No TOPMed
rs775421418
CA3694332
332 G>N No ClinGen
ExAC
TOPMed
gnomAD
CA3694333
rs775116335
332 G>V No ClinGen
ExAC
gnomAD
rs142632327 333 A>C No ESP
gnomAD
rs867373109 333 A>H No gnomAD
CA3694331
rs760758281
334 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1479243129 334 V>M No gnomAD
rs775421418 334 V>N No ExAC
TOPMed
gnomAD
rs775116335 334 V>V No ExAC
gnomAD
rs760758281 336 A>L No ExAC
TOPMed
gnomAD
rs758940176 337 V>M No ExAC
gnomAD
rs9261293 338 E>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA363053438
rs1370560257
339 G>G No ClinGen
gnomAD
rs779373840 341 G>C No ExAC
rs1370560257 341 G>G No gnomAD
rs1297200720
CA363053401
341 G>L No ClinGen
TOPMed
gnomAD
rs1191236977 341 G>Y No TOPMed
rs769025458
CA3694326
342 G>H No ClinGen
ExAC
TOPMed
gnomAD
CA363053399
rs1424300465
342 G>S No ClinGen
TOPMed
TCGA novel 343 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1297200720 343 R>L No TOPMed
gnomAD
rs1297200720 343 R>R No TOPMed
gnomAD
rs769025458 344 L>H No ExAC
TOPMed
gnomAD
rs556846834
CA3694325
344 L>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769025458 344 L>P No ExAC
TOPMed
gnomAD
rs1424300465 344 L>S No TOPMed
rs1351956716 345 W>V No gnomAD
rs1424565295
CA363053357
346 A>C No ClinGen
gnomAD
rs556846834 346 A>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs753467188 346 A>T No ExAC
gnomAD
rs765948440 346 A>V No ExAC
rs1279013564 348 T>A No gnomAD
rs1424565295 348 T>C No gnomAD
rs1220722903 348 T>M No gnomAD
rs1191949930
CA363053322
349 A>L No ClinGen
gnomAD
rs369294101 350 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1177060062 350 P>L No TOPMed
rs1177060062 350 P>R No TOPMed
rs1399854541
CA363053318
350 P>T No ClinGen
TOPMed
rs577656142 351 E>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs922357572 351 E>K No TOPMed
rs751046519
CA3694319
351 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1191949930 351 E>L No gnomAD
rs577656142 351 E>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1399854541 352 P>T No TOPMed
rs749879814 353 T>I No ExAC
TOPMed
gnomAD
rs751046519 353 T>K No ExAC
TOPMed
gnomAD
rs749879814 353 T>N No ExAC
TOPMed
gnomAD
rs533103241 353 T>P No 1000Genomes
rs1220065265 355 L>S No gnomAD
rs1242540383 355 L>V No TOPMed
gnomAD
rs1229428218 355 L>W No TOPMed
rs1179559226 356 G>V No TOPMed
gnomAD
rs1429905652 357 G>A No gnomAD
rs761687873 359 E>* No ExAC
TOPMed
gnomAD
rs200705517 359 E>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761687873 359 E>Q No ExAC
TOPMed
gnomAD
rs540860670 360 P>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs776965364 360 P>L No ExAC
gnomAD
rs540860670 360 P>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs911397745 361 P>L No TOPMed
gnomAD
rs911397745 361 P>Q No TOPMed
gnomAD
TCGA novel 364 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747150346 364 R>S No ExAC
gnomAD
TCGA novel 366 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773383627 366 R>H No ExAC
TOPMed
gnomAD
rs773383627 366 R>L No ExAC
TOPMed
gnomAD
TCGA novel 367 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1191830405 371 W>G No TOPMed
rs1191830405 371 W>R No TOPMed
rs1200722313 372 E>* No TOPMed
gnomAD
rs1561979924 372 E>A No Ensembl
rs139005614 373 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779425781 373 R>P No ExAC
gnomAD
rs139005614 373 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1561979878 375 R>H No Ensembl
rs1379625838 376 V>L No TOPMed
gnomAD
rs1379625838 376 V>M No TOPMed
gnomAD
rs996183104 377 A>T No Ensembl
rs1464851220 380 D>H No TOPMed
rs1464851220 380 D>Y No TOPMed
rs1396583723 381 G>D No TOPMed
rs370735380 381 G>S No ESP
ExAC
TOPMed
gnomAD
rs755694474 384 L>F No ExAC
TOPMed
gnomAD
rs755694474 384 L>V No ExAC
TOPMed
gnomAD
rs904988206 385 D>A No TOPMed
rs762180592 390 F>L No ExAC
gnomAD
rs376524967 392 A>G No ESP
TOPMed
gnomAD
rs376524967 392 A>V No ESP
TOPMed
gnomAD
rs1238839228 394 G>C No gnomAD
rs764001778 395 P>H No ExAC
TOPMed
gnomAD
rs1358193765 396 L>P No TOPMed
gnomAD
rs1487524808 398 E>K No TOPMed
CA136035632
rs142632327
399 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
gnomAD
ClinGen
NCI-TCGA
rs867373109 399 R>H No gnomAD
rs775421418 400 I>N No ExAC
TOPMed
gnomAD
rs775116335 400 I>V No ExAC
gnomAD
rs760758281 402 P>L No ExAC
TOPMed
gnomAD
rs1370560257 407 C>G No gnomAD
rs1191236977 407 C>Y No TOPMed
rs1297200720 409 P>L No TOPMed
gnomAD
rs1297200720 409 P>R No TOPMed
gnomAD
rs769025458 410 R>H No ExAC
TOPMed
gnomAD
rs769025458 410 R>P No ExAC
TOPMed
gnomAD
rs1424300465 410 R>S No TOPMed
rs1351956716 411 A>V No gnomAD
rs556846834 412 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1424565295 414 R>C No gnomAD
rs369294101 416 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs577656142 417 P>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs1191949930 417 P>L No gnomAD
rs577656142 417 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1399854541 418 A>T No TOPMed
rs751046519 419 E>K No ExAC
TOPMed
gnomAD
rs1220065265 421 S>S No gnomAD
rs1229428218 421 S>W No TOPMed

No associated diseases with Q9H2S5

3 regional properties for Q9H2S5

Type Name Position InterPro Accession
domain Death domain 15 - 93 IPR000488
domain Protein kinase domain 210 - 475 IPR000719
domain IRAK2, death domain 3 - 91 IPR042151

Functions

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

1 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

2 GO annotations of molecular function

Name Definition
metal ion binding Binding to a metal ion.
ubiquitin protein ligase activity Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.

3 GO annotations of biological process

Name Definition
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
protein ubiquitination The process in which one or more ubiquitin groups are added to a protein.
regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).

49 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5E9G4 TRIM10 Tripartite motif-containing protein 10 Bos taurus (Bovine) PR
Q2T9Z0 TRIM17 E3 ubiquitin-protein ligase TRIM17 Bos taurus (Bovine) PR
E1BJS7 TRIM71 E3 ubiquitin-protein ligase TRIM71 Bos taurus (Bovine) PR
Q7YRV4 TRIM21 E3 ubiquitin-protein ligase TRIM21 Bos taurus (Bovine) PR
Q1PRL4 TRIM71 E3 ubiquitin-protein ligase TRIM71 Gallus gallus (Chicken) PR
Q7YR32 TRIM10 Tripartite motif-containing protein 10 Pan troglodytes (Chimpanzee) PR
Q9BTV5 FSD1 Fibronectin type III and SPRY domain-containing protein 1 Homo sapiens (Human) PR
Q9UJV3 MID2 Probable E3 ubiquitin-protein ligase MID2 Homo sapiens (Human) PR
P29590 PML Protein PML Homo sapiens (Human) PR
Q9NQ86 TRIM36 E3 ubiquitin-protein ligase TRIM36 Homo sapiens (Human) PR
Q86UV6 TRIM74 Tripartite motif-containing protein 74 Homo sapiens (Human) PR
Q2Q1W2 TRIM71 E3 ubiquitin-protein ligase TRIM71 Homo sapiens (Human) PR
Q9BXM9 FSD1L FSD1-like protein Homo sapiens (Human) PR
Q5EBN2 TRIM61 Putative tripartite motif-containing protein 61 Homo sapiens (Human) PR
Q86UV7 TRIM73 Tripartite motif-containing protein 73 Homo sapiens (Human) PR
Q86XT4 TRIM50 E3 ubiquitin-protein ligase TRIM50 Homo sapiens (Human) PR
Q8N9V2 TRIML1 Probable E3 ubiquitin-protein ligase TRIML1 Homo sapiens (Human) PR
Q9BZY9 TRIM31 E3 ubiquitin-protein ligase TRIM31 Homo sapiens (Human) PR
Q6ZMU5 TRIM72 Tripartite motif-containing protein 72 Homo sapiens (Human) PR
Q9UPQ4 TRIM35 E3 ubiquitin-protein ligase TRIM35 Homo sapiens (Human) PR
Q9C029 TRIM7 E3 ubiquitin-protein ligase TRIM7 Homo sapiens (Human) PR
O15553 MEFV Pyrin Homo sapiens (Human) SS
A6NCK2 TRIM43B Tripartite motif-containing protein 43B Homo sapiens (Human) PR
P19474 TRIM21 E3 ubiquitin-protein ligase TRIM21 Homo sapiens (Human) PR
Q14142 TRIM14 Tripartite motif-containing protein 14 Homo sapiens (Human) PR
A6NK02 TRIM75 Tripartite motif-containing protein 75 Homo sapiens (Human) PR
Q9WUH5 Trim10 Tripartite motif-containing protein 10 Mus musculus (Mouse) PR
Q8BZT2 Sh3rf2 E3 ubiquitin-protein ligase SH3RF2 Mus musculus (Mouse) PR
Q7TPM3 Trim17 E3 ubiquitin-protein ligase TRIM17 Mus musculus (Mouse) PR
Q1XH17 Trim72 Tripartite motif-containing protein 72 Mus musculus (Mouse) PR
Q60953 Pml Protein PML Mus musculus (Mouse) PR
Q9JJ26 Mefv Pyrin Mus musculus (Mouse) SS
Q99PQ1 Trim12a Tripartite motif-containing protein 12A Mus musculus (Mouse) PR
Q61510 Trim25 E3 ubiquitin/ISG15 ligase TRIM25 Mus musculus (Mouse) PR
Q810I2 Trim50 E3 ubiquitin-protein ligase TRIM50 Mus musculus (Mouse) PR
Q1PSW8 Trim71 E3 ubiquitin-protein ligase TRIM71 Mus musculus (Mouse) PR
Q3TL54 Trim43a Tripartite motif-containing protein 43A Mus musculus (Mouse) PR
P86449 Trim43c Tripartite motif-containing protein 43C Mus musculus (Mouse) PR
O77666 TRIM26 Tripartite motif-containing protein 26 Sus scrofa (Pig) PR
O19085 TRIM10 Tripartite motif-containing protein 10 Sus scrofa (Pig) PR
Q865W2 TRIM50 E3 ubiquitin-protein ligase TRIM50 Sus scrofa (Pig) PR
Q9JJ25 Mefv Pyrin Rattus norvegicus (Rat) SS
A0JPQ4 Trim72 Tripartite motif-containing protein 72 Rattus norvegicus (Rat) PR
Q810I1 Trim50 E3 ubiquitin-protein ligase TRIM50 Rattus norvegicus (Rat) PR
D3ZVM4 Trim71 E3 ubiquitin-protein ligase TRIM71 Rattus norvegicus (Rat) PR
Q920M2 Rnf39 RING finger protein 39 Rattus norvegicus (Rat) PR
F6QEU4 trim71 E3 ubiquitin-protein ligase TRIM71 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q640S6 trim72 Tripartite motif-containing protein 72 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
E7FAM5 trim71 E3 ubiquitin-protein ligase TRIM71 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MWWRDLTRLR LWLKREAIPG EGRKAAKVNA GVGEKGIYTA SSRGGPPSAR SKAVTVVAEG
70 80 90 100 110 120
AASRSWLSMD APELGPGLVE RLEQLATCPL CGGSFEDPVL LACEHSFCRA CLARRWGTPP
130 140 150 160 170 180
ATGTEASPTA CPCCGLPCPR RSLRSNVRLA VEVRISRELR EKLAEPGARA GRRRGGRIPT
190 200 210 220 230 240
MGCLDLPGED MRKTWRRFEV PTSKSSNSED DLPEDYPVVK KMLHRLTADL TLDPGTAHRR
250 260 270 280 290 300
LLISADRRSV QLAPPGTPAP PDGPKRFDQL PAVLGAQGFG AGRHCWEVET ADAASCRDSS
310 320 330 340 350 360
GEDADDEESH YAVGAAGESV QRKGCVRLCP AGAVWAVEGR GGRLWALTAP EPTLLGGVEP
370 380 390 400 410
PPRRIRVDLD WERGRVAFYD GRSLDLLYAF QAPGPLGERI FPLFCTCDPR APLRIVPAES