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 Q9NWS9

Entry ID Method Resolution Chain Position Source
AF-Q9NWS9-F1 Predicted AlphaFoldDB

519 variants for Q9NWS9

Variant ID(s) Position Change Description Diseaes Association Provenance
CA407919339
rs1193858763
2 P>T No ClinGen
gnomAD
CA407919350
rs1374701767
3 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9717203
rs139524979
4 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407919357
rs1375760491
5 L>V No ClinGen
gnomAD
rs765197845
CA9717205
6 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs765197845
CA407919365
6 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA9717207
rs762836677
7 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1050307707
CA310584393
8 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1298454692
CA407919373
8 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs756900544
CA9717210
9 C>Y No ClinGen
ExAC
gnomAD
rs151034980
CA310584399
12 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs151034980
CA9717213
12 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407919431
CA407919428
rs1263847360
13 M>I No ClinGen
TOPMed
gnomAD
CA9717216
rs769165564
13 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs374342822
CA310584403
14 D>A No ClinGen
Ensembl
CA9717218
rs748544761
15 P>R No ClinGen
ExAC
gnomAD
rs772234094
CA9717219
16 E>D No ClinGen
ExAC
CA407919456
rs1395495953
16 E>K No ClinGen
TOPMed
gnomAD
CA310584406
rs922505292
17 T>N No ClinGen
TOPMed
rs1600007090
CA407919481
18 T>P No ClinGen
Ensembl
CA9717221
rs760775667
19 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 20 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1465941795
CA407919552
23 E>G No ClinGen
TOPMed
rs1385732867
CA407919569
24 T>S No ClinGen
gnomAD
rs775484302
CA9717223
25 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs530358065
CA9717224
26 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764127555
CA9717225
26 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA310584410
rs775487509
28 R>C No ClinGen
TOPMed
gnomAD
rs751356726
CA9717226
28 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs751356726
CA9717227
28 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9717229
rs149794317
30 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149794317
CA9717230
30 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9717231
rs375327619
30 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407919710
rs1447600852
32 F>S No ClinGen
gnomAD
CA407919728
rs1489375419
33 C>Y No ClinGen
gnomAD
CA310584415
rs75319550
35 Q>K No ClinGen
Ensembl
rs200797935
CA9717233
36 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9717234
rs202065616
37 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA407919804
rs1266328915
37 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA407919821
rs892816074
38 A>S No ClinGen
TOPMed
gnomAD
CA310584417
rs892816074
38 A>T No ClinGen
TOPMed
gnomAD
CA407919838
rs1456220103
39 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9717238
rs758801580
40 P>A No ClinGen
ExAC
gnomAD
rs758801580
CA9717237
40 P>S No ClinGen
ExAC
gnomAD
CA9717239
rs894092062
41 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs894092062
CA407919869
41 R>G No ClinGen
TOPMed
gnomAD
rs372548948
CA9717241
41 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 42 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776503545
CA9717243
42 E>K No ClinGen
ExAC
gnomAD
CA9717246
rs774473287
44 L>P No ClinGen
ExAC
gnomAD
CA407919941
rs1273811883
45 A>T No ClinGen
gnomAD
COSM1234074
rs142265239
CA9717249
46 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147631014
CA9717248
46 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs982038214
CA310584432
48 R>C No ClinGen
gnomAD
CA9717250
rs760179216
48 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs760179216
CA407919998
48 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs375482013
CA9717252
49 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766088451
CA9717251
49 E>K No ClinGen
ExAC
gnomAD
CA9717254
rs765700525
50 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA407920047
rs1164629960
51 C>R No ClinGen
gnomAD
rs1355509954
CA407920058
51 C>S No ClinGen
gnomAD
CA310584441
rs749869699
53 Q>* No ClinGen
Ensembl
rs552302146
CA9717258
53 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs747401773
CA9717259
55 L>P No ClinGen
ExAC
gnomAD
CA407920131
rs1350101795
55 L>V No ClinGen
gnomAD
rs1377002380
CA407920140
56 Q>E No ClinGen
gnomAD
CA407920173
rs1226569892
58 E>G No ClinGen
gnomAD
CA9717261
rs569265707
59 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs745917976
CA9717262
60 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA407920197
rs745917976
60 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs770068950
CA9717263
60 H>Q No ClinGen
ExAC
gnomAD
CA407920192
rs1207015785
60 H>Y No ClinGen
gnomAD
CA407920214
rs1277754471
62 K>Q No ClinGen
TOPMed
rs964510679
CA310584448
63 E>D No ClinGen
TOPMed
rs760541743
CA9717272
68 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA407920328
rs770470395
69 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs770470395
CA9717273
69 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs369600385
CA310584453
69 L>V No ClinGen
ESP
TOPMed
rs759040878
CA9717275
72 E>G No ClinGen
ExAC
gnomAD
rs764784692
CA407920369
73 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA9717276
rs764784692
73 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA407920372
rs752216410
73 Q>P No ClinGen
ExAC
gnomAD
CA9717277
rs752216410
73 Q>R No ClinGen
ExAC
gnomAD
CA407920386
rs1568616613
RCV000785694
74 F>C No ClinGen
ClinVar
Ensembl
dbSNP
CA310584459
rs932673545
75 L>R No ClinGen
Ensembl
CA9717278
rs763299567
75 L>V No ClinGen
ExAC
CA407920405
rs1216677321
76 G>D No ClinGen
TOPMed
rs1280256611
CA407920412
77 T>P No ClinGen
gnomAD
CA407920424
rs1282062817
78 L>V No ClinGen
TOPMed
rs751818635
CA9717280
79 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs751818635
CA407920439
79 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA407920451
rs1162606416
80 P>R No ClinGen
gnomAD
rs1345651391
CA407920445
80 P>S No ClinGen
TOPMed
rs781620582
CA310584468
85 W>C No ClinGen
Ensembl
CA310584466
rs755546434
85 W>S No ClinGen
Ensembl
rs1221499003
CA407920542
87 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9717283
rs372021171
87 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs567876261
CA407920545
88 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407920548
rs1454959186
88 G>D No ClinGen
gnomAD
rs567876261
CA407920546
88 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9717285
rs567876261
88 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA310584470
CA9717286
rs748516168
89 Q>H No ClinGen
ExAC
gnomAD
rs148187921
CA9717287
90 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1423309849
COSM1613005
CA407920557
90 R>W Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1319070201
CA407920566
91 P>A No ClinGen
gnomAD
rs777816842
CA9717288
92 G>S No ClinGen
ExAC
gnomAD
CA310584474
rs765132042
93 S>G No ClinGen
TOPMed
gnomAD
CA407920592
rs1600007622
93 S>I No ClinGen
Ensembl
CA407920602
rs1478978530
94 P>T No ClinGen
TOPMed
CA9717289
rs746750559
95 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs746750559
CA407920618
95 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs1441332378
CA407920633
96 E>A No ClinGen
gnomAD
rs770824695
CA9717290
96 E>K No ClinGen
ExAC
gnomAD
rs759130926
CA9717292
98 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA407920654
rs759130926
98 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1211585446
CA407920671
99 A>S No ClinGen
TOPMed
rs774937598
CA9717294
99 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1247928035
CA407920691
100 L>P No ClinGen
gnomAD
TCGA novel 101 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407920716
rs1469234571
102 E>K No ClinGen
gnomAD
rs1201454608
CA407920737
103 G>R No ClinGen
gnomAD
CA9717296
rs376598873
106 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA310584483
rs777879466
107 D>N No ClinGen
TOPMed
CA407920849
rs1231840534
108 P>R No ClinGen
gnomAD
CA407920864
rs1293104789
109 G>E No ClinGen
gnomAD
CA9717297
CA407920853
rs189690067
109 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1293104789
CA407920861
109 G>V No ClinGen
gnomAD
CA407920933
rs1455679677
113 G>D No ClinGen
gnomAD
rs1319186116
CA407920929
113 G>S No ClinGen
gnomAD
rs373908208
CA9717324
116 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373908208
CA9717323
116 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407921077
rs1600007913
117 A>S No ClinGen
Ensembl
rs1600007922
CA407921080
117 A>V No ClinGen
Ensembl
rs1416833001
CA407921084
118 H>N No ClinGen
TOPMed
gnomAD
rs142097465
CA9717326
118 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407921100
rs757146500
119 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA9717327
rs757146500
119 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1352417991
CA407921153
122 Q>H No ClinGen
TOPMed
rs954115707
CA310584523
125 L>I No ClinGen
TOPMed
rs745636559
CA9717329
129 Q>H No ClinGen
ExAC
gnomAD
CA9717331
rs755939389
131 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs779565832
CA9717332
132 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9717334
rs748915859
133 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs771026250
CA9717335
134 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA407921348
rs1568616852
135 L>F No ClinGen
Ensembl
CA407921352
rs146360906
135 L>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9717337
rs146360906
135 L>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1366634110
CA407921358
136 G>R No ClinGen
gnomAD
CA407921374
rs1413223042
137 S>N No ClinGen
gnomAD
rs773896777
CA9717340
138 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA407921390
rs773896777
138 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs540849141
CA9717341
139 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
rs776870474
CA9717343
140 P>L No ClinGen
ExAC
gnomAD
rs370067711
CA407921420
140 P>S No ClinGen
ESP
ExAC
gnomAD
CA9717342
rs370067711
140 P>T No ClinGen
ESP
ExAC
gnomAD
rs139783228
CA9717344
141 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407921447
rs765409379
142 G>E No ClinGen
ExAC
gnomAD
rs765409379
CA9717345
142 G>V No ClinGen
ExAC
gnomAD
rs966393769
CA310584547
143 T>I No ClinGen
Ensembl
CA407921469
rs1222670162
144 V>G No ClinGen
TOPMed
rs1340389571
CA407921462
144 V>M No ClinGen
gnomAD
rs758518756
CA9717348
145 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs750425361
CA9717350
146 S>F No ClinGen
ExAC
gnomAD
rs560731376
CA9717349
146 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756061797
CA407921519
148 G>E No ClinGen
ExAC
gnomAD
CA407921513
rs1242364156
148 G>R No ClinGen
TOPMed
rs756061797
CA9717351
148 G>V No ClinGen
ExAC
gnomAD
CA407921527
rs1355080041
149 E>K No ClinGen
TOPMed
CA407921548
rs779835478
150 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA9717352
rs779835478
150 G>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 150 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1189079464
CA407921562
151 P>L No ClinGen
gnomAD
CA9717353
rs749072418
154 T>I No ClinGen
ExAC
gnomAD
CA9717354
rs749072418
154 T>N No ClinGen
ExAC
gnomAD
CA407921616
rs1294041963
155 R>K No ClinGen
gnomAD
CA310584556
rs934492877
156 I>T No ClinGen
Ensembl
rs577595268
CA407921641
157 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407921633
rs1377827522
157 E>Q No ClinGen
gnomAD
CA9717356
rs577595268
157 E>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771775778
CA9717357
158 G>E No ClinGen
ExAC
gnomAD
rs1323106913
CA407921688
160 V>A No ClinGen
gnomAD
CA407921684
rs1436509145
160 V>L No ClinGen
gnomAD
rs747458302
CA9717359
161 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs771345271
CA9717360
163 S>G No ClinGen
ExAC
gnomAD
rs771345271
CA407921721
163 S>R No ClinGen
ExAC
gnomAD
rs1302328115
CA407921735
163 S>T No ClinGen
gnomAD
CA310584561
rs112028032
164 C>R No ClinGen
Ensembl
CA310584563
rs951369405
164 C>Y No ClinGen
TOPMed
gnomAD
CA9717362
rs914345461
167 K>E No ClinGen
TOPMed
gnomAD
CA310584567
rs112625774
167 K>R No ClinGen
Ensembl
CA407921839
rs1255511513
168 E>G No ClinGen
gnomAD
CA407921850
rs1486377992
169 E>A No ClinGen
TOPMed
gnomAD
rs1280478581
CA407921848
169 E>Q No ClinGen
TOPMed
gnomAD
CA407921872
rs1329887822
170 P>R No ClinGen
gnomAD
rs1191530269
CA407921865
170 P>T No ClinGen
TOPMed
rs1209322704
CA407921878
171 N>H No ClinGen
gnomAD
CA9717364
rs777012569
171 N>K No ClinGen
ExAC
gnomAD
rs1187689030
CA407921912
172 V>G No ClinGen
TOPMed
gnomAD
rs759839896
CA9717365
172 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA9717367
rs775611679
173 D>N No ClinGen
ExAC
gnomAD
CA310584572
rs1002912923
174 G>* No ClinGen
TOPMed
gnomAD
CA407921960
rs1002912923
174 G>R No ClinGen
TOPMed
gnomAD
CA407922008
rs764214696
175 Q>H No ClinGen
ExAC
gnomAD
CA407922076
rs1387087726
178 A>T No ClinGen
gnomAD
rs148708008
CA9717400
178 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs938373587
CA310584654
179 P>L No ClinGen
TOPMed
gnomAD
rs938373587
CA310584655
179 P>R No ClinGen
TOPMed
gnomAD
rs781718561
CA407923420
179 P>S No ClinGen
ExAC
TOPMed
rs781718561
CA9717402
179 P>T No ClinGen
ExAC
TOPMed
CA407923495
rs1290680396
180 S>C No ClinGen
gnomAD
rs746417197
CA9717403
181 S>N No ClinGen
ExAC
gnomAD
rs1249019379
CA407923566
182 P>L No ClinGen
gnomAD
CA407923563
rs1451889766
182 P>S No ClinGen
TOPMed
CA9717404
rs756655988
183 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA407923622
rs1416573450
185 A>T No ClinGen
TOPMed
gnomAD
rs368910040
CA9717407
186 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407923683
rs1568617200
187 Q>E No ClinGen
Ensembl
TCGA novel 188 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372284895
CA9717409
190 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs77446414
CA310584668
191 G>W No ClinGen
Ensembl
rs893185
VAR_033566
CA9717410
192 N>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA407923793
rs893185
192 N>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9717413
rs139673627
195 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9717412
rs773358170
195 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA9717414
rs547175483
196 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 197 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775373065
CA9717415
198 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1342555621
CA407924073
198 P>L No ClinGen
gnomAD
rs775373065
CA407924067
198 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs762887094
CA9717416
199 A>G No ClinGen
ExAC
gnomAD
rs1249382783
CA407924097
199 A>P No ClinGen
TOPMed
CA407924132
rs1489246691
200 S>P No ClinGen
TOPMed
rs751237339
CA9717418
201 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1210202132
CA407924196
202 S>T No ClinGen
gnomAD
rs756777272
CA9717419
202 S>Y No ClinGen
ExAC
gnomAD
CA407924324
rs1240194720
204 H>Y No ClinGen
gnomAD
rs1007433237
CA310584682
205 P>L No ClinGen
TOPMed
gnomAD
CA407924407
rs1007433237
205 P>R No ClinGen
TOPMed
gnomAD
rs1600008892
CA407924597
209 Q>P No ClinGen
Ensembl
CA9717444
rs372469497
210 E>Q No ClinGen
ESP
ExAC
gnomAD
rs1477366561
CA407925136
212 W>S No ClinGen
Ensembl
rs1172574543
CA407925198
213 G>A No ClinGen
TOPMed
CA407925179
rs1224113970
213 G>R No ClinGen
gnomAD
CA407925239
rs779184790
215 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs758497422
CA9717447
216 D>E No ClinGen
ExAC
gnomAD
rs1414200714
CA407925282
216 D>N No ClinGen
gnomAD
CA407925340
rs1156700647
217 R>G No ClinGen
TOPMed
gnomAD
rs145267240
CA9717449
217 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145267240
CA9717448
217 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407925345
rs1156700647
217 R>W No ClinGen
TOPMed
gnomAD
rs1325194594
CA407925435
220 K>E No ClinGen
gnomAD
CA9717452
rs749177802
222 L>M No ClinGen
ExAC
gnomAD
CA407925574
rs1482704914
222 L>P No ClinGen
TOPMed
rs1288458131
CA634057317
223 Y>* No ClinGen
TOPMed
gnomAD
rs368531505
CA310585235
223 Y>* No ClinGen
TOPMed
gnomAD
CA407925678
rs1227138850
224 W>* No ClinGen
gnomAD
rs1351758569
CA407925643
224 W>G No ClinGen
gnomAD
CA407925749
rs768717314
226 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1279463812
CA407925740
226 A>T No ClinGen
gnomAD
CA9717453
rs768717314
226 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA407925801
rs1288079841
227 M>I No ClinGen
gnomAD
rs771594520
CA9717456
228 L>V No ClinGen
ExAC
gnomAD
rs528099361
CA9717457
229 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA407925850
rs528099361
229 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA407925908
rs960921790
230 K>N No ClinGen
gnomAD
rs760169224
CA9717458
230 K>Q No ClinGen
ExAC
gnomAD
CA9717460
rs140158663
231 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407925973
rs1179649890
232 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1026385360
CA310585260
233 T>P No ClinGen
TOPMed
CA9717462
rs765793342
236 S>F No ClinGen
ExAC
gnomAD
CA407926202
rs1423645533
237 L>V No ClinGen
gnomAD
rs1351136234
CA407928428
238 G>E No ClinGen
gnomAD
CA9717463
rs752978153
238 G>R No ClinGen
ExAC
gnomAD
rs1600011121
CA407928458
239 L>F No ClinGen
Ensembl
rs762310765
CA9717505
240 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA407928482
rs1309028155
240 P>S No ClinGen
TOPMed
gnomAD
rs1600011147
CA407928645
242 H>P No ClinGen
Ensembl
rs756304563
CA9717508
242 H>Y No ClinGen
ExAC
gnomAD
CA9717510
rs766418424
246 A>E No ClinGen
ExAC
gnomAD
rs766418424
CA407928839
246 A>G No ClinGen
ExAC
gnomAD
rs376759105
CA310586695
246 A>T No ClinGen
ESP
TOPMed
gnomAD
rs1418933858
CA407928859
247 Q>K No ClinGen
gnomAD
CA407928972
rs1233637863
248 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA407928993
rs1370511655
249 Q>* No ClinGen
gnomAD
CA9717512
rs570201778
249 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407929066
rs1163136664
250 S>* No ClinGen
TOPMed
gnomAD
CA9717513
rs149741429
252 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407929184
rs1332441585
253 G>R No ClinGen
gnomAD
CA407929301
rs746772306
255 L>P No ClinGen
ExAC
gnomAD
CA9717514
rs746772306
255 L>Q No ClinGen
ExAC
gnomAD
CA9717516
rs200445318
257 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9717518
rs769334299
258 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA407929479
rs1290567124
259 T>I No ClinGen
gnomAD
CA9717520
rs748768062
260 G>V No ClinGen
ExAC
gnomAD
CA9717523
rs376435276
261 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9717522
rs373696981
261 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407929627
rs1182906876
262 C>R No ClinGen
gnomAD
rs773720856
CA407929683
263 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs773720856
CA9717525
263 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs760915055
CA9717526
263 R>K No ClinGen
ExAC
gnomAD
CA9717527
rs766534460
264 S>I No ClinGen
ExAC
gnomAD
CA407929727
rs766534460
264 S>N No ClinGen
ExAC
gnomAD
rs1168453359
CA407929779
265 L>Q No ClinGen
gnomAD
CA9717529
rs759571900
266 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA407929840
rs1461457781
266 R>H No ClinGen
TOPMed
gnomAD
CA9717530
rs764011980
267 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs764011980
CA310586822
267 S>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 268 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407930178
rs1568618256
270 E>Q No ClinGen
Ensembl
rs900565566
CA407930222
271 S>N No ClinGen
gnomAD
rs900565566
CA310587007
271 S>T No ClinGen
gnomAD
rs779745661
CA9717555
272 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA407930417
rs1405115757
274 P>S No ClinGen
gnomAD
CA407930481
rs1304463734
275 P>L No ClinGen
gnomAD
rs753374464
CA9717556
277 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs939017683
CA310587021
278 P>S No ClinGen
TOPMed
gnomAD
CA9717557
rs754682385
280 A>T No ClinGen
ExAC
gnomAD
CA9717559
rs112871920
282 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407930869
rs112871920
282 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407930852
rs1405807364
282 P>S No ClinGen
TOPMed
TCGA novel 283 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407930996
rs1224953660
284 Q>H No ClinGen
gnomAD
CA407931012
rs1266909771
RCV000736168
285 G>C No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA407931017
rs1222938466
285 G>D No ClinGen
TOPMed
rs1266909771
CA407931007
285 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs747391901
CA9717564
288 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs747391901
CA407931156
288 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1471081993
CA407931197
289 A>P No ClinGen
gnomAD
CA310587060
rs1041860970
294 L>S No ClinGen
TOPMed
gnomAD
rs1288452860
CA407931515
295 S>P No ClinGen
TOPMed
rs777063353
CA9717566
295 S>Y No ClinGen
ExAC
gnomAD
CA9717567
rs759684732
296 G>R No ClinGen
ExAC
gnomAD
CA310587073
rs201411273
297 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA9717569
rs201411273
297 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA9717568
rs201411273
297 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA407931645
rs1295281324
297 A>V No ClinGen
TOPMed
CA9717571
rs767410440
298 A>T No ClinGen
ExAC
gnomAD
rs1030737474
CA310587076
299 T>A No ClinGen
TOPMed
gnomAD
CA407931741
rs36095067
300 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_033567
CA9717572
rs36095067
300 P>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs36095067
CA9717573
300 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753699853
CA9717575
302 P>H No ClinGen
ExAC
gnomAD
CA407931827
rs753699853
302 P>L No ClinGen
ExAC
gnomAD
CA9717574
rs766022624
302 P>S No ClinGen
ExAC
gnomAD
rs1255678481
CA407931840
303 T>A No ClinGen
gnomAD
rs754632855
CA9717576
304 V>A No ClinGen
ExAC
gnomAD
rs765035220
CA9717577
305 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1020856475
CA310587118
305 R>H No ClinGen
TOPMed
gnomAD
CA407931900
rs765035220
305 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1488421019
CA407931944
306 P>T No ClinGen
TOPMed
rs1194422075
CA407932018
308 T>I No ClinGen
gnomAD
rs530628451
CA9717578
309 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407932038
rs1205961051
309 P>S No ClinGen
gnomAD
CA407932138
rs1600011861
312 P>S No ClinGen
Ensembl
rs778326829
CA9717580
313 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1185124638
CA407932176
313 T>S No ClinGen
gnomAD
CA310587133
rs747414702
314 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA9717581
rs747414702
314 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA407932244
rs1168018713
316 T>A No ClinGen
gnomAD
rs1397966064
CA407932254
316 T>K No ClinGen
gnomAD
CA9717583
rs781368114
317 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA9717582
rs757783766
317 P>T No ClinGen
ExAC
gnomAD
CA407932302
rs1167862255
318 A>T No ClinGen
TOPMed
gnomAD
rs375781550
CA9717584
318 A>V No ClinGen
ESP
ExAC
gnomAD
CA9717586
rs368919922
320 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9717588
rs749364662
321 R>K No ClinGen
ExAC
gnomAD
CA407932392
rs1253188144
322 L>M No ClinGen
gnomAD
rs1600011956
CA407932401
322 L>P No ClinGen
Ensembl
rs1389092142
CA407932417
323 E>K No ClinGen
TOPMed
rs570191316
CA9717591
324 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs148816960
CA9717590
324 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148816960
CA9717589
324 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407932450
rs1205350333
325 A>T No ClinGen
gnomAD
CA407932465
rs1240989844
325 A>V No ClinGen
gnomAD
CA9717595
rs34732619
328 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1374341880
CA407932539
328 P>S No ClinGen
gnomAD
rs752452219
CA407932607
331 P>L No ClinGen
ExAC
gnomAD
rs752452219
CA9717597
331 P>R No ClinGen
ExAC
gnomAD
CA407932597
rs1395235532
331 P>T No ClinGen
gnomAD
rs754971074
CA9717599
332 Y>H No ClinGen
ExAC
gnomAD
CA407932650
rs375255776
333 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375255776
CA9717600
333 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA407932647
rs1383037834
333 T>S No ClinGen
gnomAD
CA310587209
rs951972683
334 C>R No ClinGen
TOPMed
CA9717602
rs142886327
335 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs886668028
CA310587211
336 Q>* No ClinGen
Ensembl
rs535018059
CA9717603
337 C>S No ClinGen
1000Genomes
ExAC
gnomAD
rs140898818
CA9717605
339 R>C No ClinGen
ESP
ExAC
gnomAD
rs140898818
CA9717606
339 R>G No ClinGen
ESP
ExAC
gnomAD
rs75510905
CA9717607
339 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407932810
rs75510905
339 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748311217
CA9717610
340 G>D No ClinGen
ExAC
CA9717608
rs768955505
340 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA9717609
rs768955505
340 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1191859970
CA407932907
342 D>N No ClinGen
gnomAD
RCV000736169
rs776780438
CA9717612
343 W>* No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA9717615
rs374967652
347 F>L No ClinGen
ESP
ExAC
gnomAD
rs61731809
CA310587240
347 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9717617
rs537541090
348 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1381817617
CA407933208
350 H>Y No ClinGen
gnomAD
rs200481895
CA9717620
352 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs200481895
CA9717619
352 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9717618
rs150685554
352 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs936147390
CA407933333
354 H>P No ClinGen
TOPMed
gnomAD
rs936147390
CA310587258
354 H>R No ClinGen
TOPMed
gnomAD
CA9717621
rs371786406
355 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs573855445
CA407933428
357 G>E No ClinGen
1000Genomes
TOPMed
gnomAD
rs573855445
CA310587260
357 G>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA407933440
rs1490693628
358 P>S No ClinGen
gnomAD
CA407933469
rs1268806511
359 G>D No ClinGen
gnomAD
rs890476187
CA310587266
361 Q>H No ClinGen
Ensembl
CA9717624
rs754224920
361 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1187016188
CA407933564
361 Q>L No ClinGen
TOPMed
CA407933626
rs1426387360
362 S>C No ClinGen
TOPMed
CA9717628
rs779239073
363 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs779239073
CA9717627
363 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs61731808
CA9717632
364 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61731808
CA407933693
364 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9717631
rs745729829
364 G>R No ClinGen
ExAC
gnomAD
rs61731808
CA9717633
364 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9717640
rs761123870
368 G>E No ClinGen
ExAC
gnomAD
CA9717639
rs376903864
368 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9717641
rs766922073
370 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA310587342
rs766533535
370 S>N No ClinGen
Ensembl
rs1239041285
CA407933924
371 T>R No ClinGen
gnomAD
TCGA novel 372 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1353685766
CA407934057
374 P>S No ClinGen
TOPMed
CA407934119
rs1292045569
376 Q>* No ClinGen
gnomAD
rs754123738
CA9717642
376 Q>H No ClinGen
ExAC
gnomAD
CA407934264
rs1600012339
379 V>G No ClinGen
Ensembl
CA407934242
rs1264298056
379 V>M No ClinGen
gnomAD
CA9717645
rs778994309
380 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs778994309
CA407934274
380 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs970385247
CA310587364
381 F>L No ClinGen
TOPMed
gnomAD
CA9717646
rs752910772
382 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA407934457
rs1387320689
383 H>Q No ClinGen
gnomAD
CA310587381
rs538203453
383 H>Y No ClinGen
Ensembl
rs878944338
CA310587388
384 H>L No ClinGen
Ensembl
CA407934500
rs1163034012
384 H>Q No ClinGen
gnomAD
CA407934523
rs1462469822
385 P>L No ClinGen
gnomAD
CA407934519
rs1355149816
385 P>S No ClinGen
gnomAD
CA9717649
rs777956066
386 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs767518404 386 R>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA9717650
rs77082355
386 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9717652
rs769828843
387 R>C No ClinGen
ExAC
gnomAD
rs882610
CA9717653
VAR_052833
387 R>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1483348352
CA407934721
389 L>I No ClinGen
TOPMed
rs774029901
CA9717656
391 G>D No ClinGen
ExAC
gnomAD
CA407934808
rs1207309068
391 G>R No ClinGen
TOPMed
gnomAD
CA407934852
rs1457661898
392 P>L No ClinGen
gnomAD
CA310587426
rs966776756
393 R>Q No ClinGen
TOPMed
gnomAD
rs145426834
CA9717657
393 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA310587429
rs926186043
394 S>R No ClinGen
TOPMed
TCGA novel 395 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs936263206
CA310587431
395 Y>N No ClinGen
TOPMed
rs771735184
CA9717658
396 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs147201796
CA310587441
396 P>S No ClinGen
ESP
TOPMed
gnomAD
rs371598340
CA407935220
399 E>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1464990353
CA407935262
399 E>D No ClinGen
gnomAD
CA9717661
rs371598340
399 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371598340
CA9717662
399 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9717663
rs759978514
400 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA9717665
rs773922865
401 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1450068225
CA407935310
401 G>R No ClinGen
TOPMed
gnomAD
CA310587473
rs1010272534
403 S>T No ClinGen
Ensembl
rs1041733718
CA310587475
405 S>T No ClinGen
Ensembl
rs758642746
CA9717666
406 W>* No ClinGen
ExAC
gnomAD
CA407935631
rs1415134090
406 W>C No ClinGen
TOPMed
rs764456622
CA9717667
408 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA407935737
rs1317865350
409 Q>H No ClinGen
gnomAD
CA9717668
rs751657450
410 L>P No ClinGen
ExAC
gnomAD
rs1600012601
CA407935794
411 V>G No ClinGen
Ensembl
rs779842225
CA9717670
412 I>T No ClinGen
ExAC
gnomAD
CA310587496
rs897947662
413 H>R No ClinGen
TOPMed
rs749190454
CA9717671
413 H>Y No ClinGen
ExAC
rs201395980
RCV000736170
CA9717672
414 R>C No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9717673
rs560841758
414 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1184878498
CA407935915
415 K>E No ClinGen
gnomAD
rs1208960998
CA407935952
416 S>G No ClinGen
TOPMed
CA9717674
rs747944134
417 H>Y No ClinGen
ExAC
gnomAD
rs1209587354
CA407936027
418 T>I No ClinGen
TOPMed
rs140471976
CA9717676
421 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9717675
rs58632700
421 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9717677
rs746510974
422 R>C No ClinGen
ExAC
gnomAD
CA9717678
rs371204925
422 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1274348636
CA407936132
423 H>L No ClinGen
gnomAD
CA407936227
rs1012058289
425 C>F No ClinGen
TOPMed
gnomAD
CA310587516
rs1012058289
425 C>Y No ClinGen
TOPMed
gnomAD
rs1568618809
CA407936271
426 S>R No ClinGen
Ensembl
CA407936246
rs1439075621
426 S>R No ClinGen
TOPMed
CA9717679
rs776012556
427 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA407936351
rs1286647013
428 C>F No ClinGen
gnomAD
CA9717680
rs760045047
429 G>S No ClinGen
ExAC
gnomAD
rs765681305
CA9717681
429 G>V No ClinGen
ExAC
gnomAD
rs763448683
CA9717683
430 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA9717684
rs142233722
430 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407936449
rs142233722
430 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9717686
rs757566390
431 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1213867612
CA407936509
431 A>V No ClinGen
TOPMed
gnomAD
rs767566879
CA407936562
432 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA407936523
rs1600012766
432 F>L No ClinGen
Ensembl
rs759571274
CA9717688
433 D>N Variant assessed as Somatic; 0.0008483 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA310587556
rs963036184
434 W>C No ClinGen
TOPMed
gnomAD
rs1270972362
CA407936637
435 K>R No ClinGen
gnomAD
rs1600012788
CA407936666
436 S>A No ClinGen
Ensembl
CA9717689
rs754920927
436 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs758250273
CA9717692
437 Q>K No ClinGen
ExAC
gnomAD
rs1600012810
CA407936794
439 V>G No ClinGen
Ensembl
CA9717694
rs140103278
441 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780699404
CA9717696
442 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs745416563
CA9717697
442 R>H No ClinGen
ExAC
gnomAD
CA407936956
rs1344196320
443 K>T No ClinGen
gnomAD
CA310587598
rs7245396
444 G>A No ClinGen
Ensembl
rs571573988
CA9717701
446 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9717700
rs551824481
446 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9717703
rs116625215
447 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407937205
rs1289626177
448 E>G No ClinGen
gnomAD
CA407937230
rs1449828208
449 V>F No ClinGen
gnomAD
CA407937248
rs1600012892
449 V>G No ClinGen
Ensembl

No associated diseases with Q9NWS9

5 regional properties for Q9NWS9

Type Name Position InterPro Accession
domain Krueppel-associated box 208 - 254 IPR001909
domain SCAN domain 22 - 134 IPR003309
domain Zinc finger C2H2-type 332 - 359 IPR013087-1
domain Zinc finger C2H2-type 395 - 422 IPR013087-2
domain Zinc finger C2H2-type 423 - 450 IPR013087-3

Functions

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

3 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

4 GO annotations of molecular function

Name Definition
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
identical protein binding Binding to an identical protein or proteins.
metal ion binding Binding to a metal ion.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.

1 GO annotations of biological process

Name Definition
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

177 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q08DS3 OSR1 Protein odd-skipped-related 1 Bos taurus (Bovine) PR
Q2VWH6 FEZF2 Fez family zinc finger protein 2 Bos taurus (Bovine) PR
A6QNZ0 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Bos taurus (Bovine) PR
A7MBI1 ZFP69 Zinc finger protein 69 homolog Bos taurus (Bovine) PR
Q08705 CTCF Transcriptional repressor CTCF Gallus gallus (Chicken) PR
O42409 GFI1B Zinc finger protein Gfi-1b Gallus gallus (Chicken) PR
A2T6W2 ZNF449 Zinc finger protein 449 Pan troglodytes (Chimpanzee) PR
Q9U405 grau Transcription factor grauzone Drosophila melanogaster (Fruit fly) PR
Q7K0S9 sug Zinc finger protein GLIS2 homolog Drosophila melanogaster (Fruit fly) PR
P20385 Cf2 Chorion transcription factor Cf2 Drosophila melanogaster (Fruit fly) PR
Q86P48 ATbp AT-rich binding protein Drosophila melanogaster (Fruit fly) PR
P28698 MZF1 Myeloid zinc finger 1 Homo sapiens (Human) PR
Q9NTW7 ZFP64 Zinc finger protein 64 Homo sapiens (Human) PR
P08151 GLI1 Zinc finger protein GLI1 Homo sapiens (Human) PR
Q9UFB7 ZBTB47 Zinc finger and BTB domain-containing protein 47 Homo sapiens (Human) PR
P18146 EGR1 Early growth response protein 1 Homo sapiens (Human) PR
Q9Y5W3 KLF2 Krueppel-like factor 2 Homo sapiens (Human) PR
Q96SZ4 ZSCAN10 Zinc finger and SCAN domain-containing protein 10 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 Homo sapiens (Human) PR
P25490 YY1 Transcriptional repressor protein YY1 Homo sapiens (Human) SS
O43296 ZNF264 Zinc finger protein 264 Homo sapiens (Human) PR
P49711 CTCF Transcriptional repressor CTCF Homo sapiens (Human) PR
Q9NQX1 PRDM5 PR domain zinc finger protein 5 Homo sapiens (Human) PR
Q9HBE1 PATZ1 POZ-, AT hook-, and zinc finger-containing protein 1 Homo sapiens (Human) PR
Q8TAX0 OSR1 Protein odd-skipped-related 1 Homo sapiens (Human) PR
Q8TBJ5 FEZF2 Fez family zinc finger protein 2 Homo sapiens (Human) PR
Q96SR6 ZNF382 Zinc finger protein 382 Homo sapiens (Human) PR
Q9ULJ3 ZBTB21 Zinc finger and BTB domain-containing protein 21 Homo sapiens (Human) PR
O75840 KLF7 Krueppel-like factor 7 Homo sapiens (Human) PR
Q13127 REST RE1-silencing transcription factor Homo sapiens (Human) PR
Q8IZM8 ZNF654 Zinc finger protein 654 Homo sapiens (Human) PR
Q14526 HIC1 Hypermethylated in cancer 1 protein Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 Homo sapiens (Human) PR
Q8N680 ZBTB2 Zinc finger and BTB domain-containing protein 2 Homo sapiens (Human) PR
O95625 ZBTB11 Zinc finger and BTB domain-containing protein 11 Homo sapiens (Human) PR
Q96BV0 ZNF775 Zinc finger protein 775 Homo sapiens (Human) PR
Q5FWF6 ZNF789 Zinc finger protein 789 Homo sapiens (Human) PR
Q05516 ZBTB16 Zinc finger and BTB domain-containing protein 16 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q5VTD9 GFI1B Zinc finger protein Gfi-1b Homo sapiens (Human) PR
Q6PG37 ZNF790 Zinc finger protein 790 Homo sapiens (Human) PR
Q9NQV6 PRDM10 PR domain zinc finger protein 10 Homo sapiens (Human) PR
Q9Y2D9 ZNF652 Zinc finger protein 652 Homo sapiens (Human) PR
Q5TC79 ZBTB37 Zinc finger and BTB domain-containing protein 37 Homo sapiens (Human) PR
Q9Y4E5 ZNF451 E3 SUMO-protein ligase ZNF451 Homo sapiens (Human) PR
Q8ND82 ZNF280C Zinc finger protein 280C Homo sapiens (Human) PR
Q49AA0 ZFP69 Zinc finger protein 69 homolog Homo sapiens (Human) PR
O43298 ZBTB43 Zinc finger and BTB domain-containing protein 43 Homo sapiens (Human) PR
Q9Y330 ZBTB12 Zinc finger and BTB domain-containing protein 12 Homo sapiens (Human) PR
Q13105 ZBTB17 Zinc finger and BTB domain-containing protein 17 Homo sapiens (Human) PR
P51508 ZNF81 Zinc finger protein 81 Homo sapiens (Human) PR
Q5JNZ3 ZNF311 Zinc finger protein 311 Homo sapiens (Human) PR
Q9Y4X4 KLF12 Krueppel-like factor 12 Homo sapiens (Human) PR
P10074 ZBTB48 Telomere zinc finger-associated protein Homo sapiens (Human) PR
P17010 ZFX Zinc finger X-chromosomal protein Homo sapiens (Human) PR
Q9H5H4 ZNF768 Zinc finger protein 768 Homo sapiens (Human) PR
Q9Y2L8 ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 Homo sapiens (Human) PR
Q86UZ6 ZBTB46 Zinc finger and BTB domain-containing protein 46 Homo sapiens (Human) PR
Q8NCP5 ZBTB44 Zinc finger and BTB domain-containing protein 44 Homo sapiens (Human) PR
P41182 BCL6 B-cell lymphoma 6 protein Homo sapiens (Human) PR
Q9NQX0 PRDM6 Putative histone-lysine N-methyltransferase PRDM6 Homo sapiens (Human) PR
Q9BU19 ZNF692 Zinc finger protein 692 Homo sapiens (Human) PR
Q08AG5 ZNF844 Zinc finger protein 844 Homo sapiens (Human) PR
Q6R2W3 ZBED9 SCAN domain-containing protein 3 Homo sapiens (Human) PR
P98182 ZNF200 Zinc finger protein 200 Homo sapiens (Human) PR
Q9UK11 ZNF223 Zinc finger protein 223 Homo sapiens (Human) PR
O15156 ZBTB7B Zinc finger and BTB domain-containing protein 7B Homo sapiens (Human) PR
Q6ZMS7 ZNF783 Zinc finger protein 783 Homo sapiens (Human) PR
P59923 ZNF445 Zinc finger protein 445 Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 Homo sapiens (Human) PR
Q99612 KLF6 Krueppel-like factor 6 Homo sapiens (Human) PR
Q8TD17 ZNF398 Zinc finger protein 398 Homo sapiens (Human) PR
P52739 ZNF131 Zinc finger protein 131 Homo sapiens (Human) PR
Q05215 EGR4 Early growth response protein 4 Homo sapiens (Human) PR
Q7Z398 ZNF550 Zinc finger protein 550 Homo sapiens (Human) PR
Q9Y2K1 ZBTB1 Zinc finger and BTB domain-containing protein 1 Homo sapiens (Human) PR
Q96N20 ZNF75A Zinc finger protein 75A Homo sapiens (Human) PR
A1YPR0 ZBTB7C Zinc finger and BTB domain-containing protein 7C Homo sapiens (Human) PR
P24278 ZBTB25 Zinc finger and BTB domain-containing protein 25 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
Q9NPC7 MYNN Myoneurin Homo sapiens (Human) PR
O14978 ZNF263 Zinc finger protein 263 Homo sapiens (Human) PR
P17022 ZNF18 Zinc finger protein 18 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 Homo sapiens (Human) PR
O60304 ZNF500 Zinc finger protein 500 Homo sapiens (Human) PR
Q9NX65 ZSCAN32 Zinc finger and SCAN domain-containing protein 32 Homo sapiens (Human) PR
Q96IT1 ZNF496 Zinc finger protein 496 Homo sapiens (Human) PR
O14771 ZNF213 Zinc finger protein 213 Homo sapiens (Human) PR
O95125 ZNF202 Zinc finger protein 202 Homo sapiens (Human) PR
Q8IWY8 ZSCAN29 Zinc finger and SCAN domain-containing protein 29 Homo sapiens (Human) PR
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
A6NGD5 ZSCAN5C Zinc finger and SCAN domain-containing protein 5C Homo sapiens (Human) PR
A6NJL1 ZSCAN5B Zinc finger and SCAN domain-containing protein 5B Homo sapiens (Human) PR
Q8NF99 ZNF397 Zinc finger protein 397 Homo sapiens (Human) PR
Q86XF7 ZNF575 Zinc finger protein 575 Homo sapiens (Human) PR
Q96N95 ZNF396 Zinc finger protein 396 Homo sapiens (Human) PR
Q9UL58 ZNF215 Zinc finger protein 215 Homo sapiens (Human) PR
P17029 ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
Q9BRR0 ZKSCAN3 Zinc finger protein with KRAB and SCAN domains 3 Homo sapiens (Human) PR
Q969J2 ZKSCAN4 Zinc finger protein with KRAB and SCAN domains 4 Homo sapiens (Human) PR
Q6NSZ9 ZSCAN25 Zinc finger and SCAN domain-containing protein 25 Homo sapiens (Human) PR
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 Homo sapiens (Human) PR
Q63HK3 ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 Homo sapiens (Human) PR
P49910 ZNF165 Zinc finger protein 165 Homo sapiens (Human) PR
Q15776 ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 Homo sapiens (Human) PR
Q9H9D4 ZNF408 Zinc finger protein 408 Homo sapiens (Human) PR
O08584 Klf6 Krueppel-like factor 6 Mus musculus (Mouse) PR
Q61164 Ctcf Transcriptional repressor CTCF Mus musculus (Mouse) PR
Q810A1 Znf18 Zinc finger protein 18 Mus musculus (Mouse) PR
Q8BGS3 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Mus musculus (Mouse) PR
Q00899 Yy1 Transcriptional repressor protein YY1 Mus musculus (Mouse) PR
P41183 Bcl6 B-cell lymphoma 6 protein homolog Mus musculus (Mouse) PR
Q9DAI4 Zbtb43 Zinc finger and BTB domain-containing protein 43 Mus musculus (Mouse) PR
O70237 Gfi1b Zinc finger protein Gfi-1b Mus musculus (Mouse) PR
Q99KZ6 Znf639 Zinc finger protein 639 Mus musculus (Mouse) PR
Q9Z1D9 Znf394 Zinc finger protein 394 Mus musculus (Mouse) PR
Q9CXE0 Prdm5 PR domain zinc finger protein 5 Mus musculus (Mouse) PR
P43300 Egr3 Early growth response protein 3 Mus musculus (Mouse) PR
Q9DAU9 Znf654 Zinc finger protein 654 Mus musculus (Mouse) PR
Q9R1Y5 Hic1 Hypermethylated in cancer 1 protein Mus musculus (Mouse) PR
Q8R0T2 Znf768 Zinc finger protein 768 Mus musculus (Mouse) PR
Q9WVG7 Osr1 Protein odd-skipped-related 1 Mus musculus (Mouse) PR
Q8BI73 Znf775 Zinc finger protein 775 Mus musculus (Mouse) PR
Q8VCZ7 Zbtb7c Zinc finger and BTB domain-containing protein 7C Mus musculus (Mouse) PR
Q91VN1 Znf24 Zinc finger protein 24 Mus musculus (Mouse) PR
Q9DB38 Znf580 Zinc finger protein 580 Mus musculus (Mouse) PR
A7KBS4 Zscan4d Zinc finger and SCAN domain containing protein 4D Mus musculus (Mouse) PR
Q91VW9 Zkscan3 Zinc finger protein with KRAB and SCAN domains 3 Mus musculus (Mouse) PR
P10925 Zfy1 Zinc finger Y-chromosomal protein 1 Mus musculus (Mouse) PR
P08046 Egr1 Early growth response protein 1 Mus musculus (Mouse) PR
Q3TTC2 Yy2 Transcription factor YY2 Mus musculus (Mouse) PR
Q3UTQ7 Prdm10 PR domain zinc finger protein 10 Mus musculus (Mouse) PR
Q6P3Y5 Znf280c Zinc finger protein 280C Mus musculus (Mouse) PR
Q9ERU3 Znf22 Zinc finger protein 22 Mus musculus (Mouse) PR
Q8VIG1 Rest RE1-silencing transcription factor Mus musculus (Mouse) PR
Q9Z1D8 Zkscan5 Zinc finger protein with KRAB and SCAN domains 5 Mus musculus (Mouse) PR
Q8BID6 Zbtb46 Zinc finger and BTB domain-containing protein 46 Mus musculus (Mouse) PR
P17012 Zfx Zinc finger X-chromosomal protein Mus musculus (Mouse) PR
Q9WUK6 Zbtb18 Zinc finger and BTB domain-containing protein 18 Mus musculus (Mouse) PR
O35738 Klf12 Krueppel-like factor 12 Mus musculus (Mouse) PR
B2RXC5 Znf382 Zinc finger protein 382 Mus musculus (Mouse) PR
O08900 Ikzf3 Zinc finger protein Aiolos Mus musculus (Mouse) PR
Q5DU09 Znf652 Zinc finger protein 652 Mus musculus (Mouse) PR
Q5RJ54 Zscan26 Zinc finger and SCAN domain-containing protein 26 Mus musculus (Mouse) PR
Q8BLM0 Klf8 Krueppel-like factor 8 Mus musculus (Mouse) PR
Q99JB0 Klf7 Krueppel-like factor 7 Mus musculus (Mouse) PR
Q8R0A2 Zbtb44 Zinc finger and BTB domain-containing protein 44 Mus musculus (Mouse) PR
P20662 Zfy2 Zinc finger Y-chromosomal protein 2 Mus musculus (Mouse) PR
Q80VJ6 Zscan4c Zinc finger and SCAN domain containing protein 4C Mus musculus (Mouse) PR
Q3URS2 Zscan4f Zinc finger and SCAN domain containing protein 4F Mus musculus (Mouse) PR
Q60980 Klf3 Krueppel-like factor 3 Mus musculus (Mouse) PR
Q8K3J5 Znf131 Zinc finger protein 131 Mus musculus (Mouse) PR
Q9Z2K3 Znf394 Zinc finger protein 394 Rattus norvegicus (Rat) PR
Q642B9 Znf18 Zinc finger protein 18 Rattus norvegicus (Rat) PR
B0K011 Osr1 Protein odd-skipped-related 1 Rattus norvegicus (Rat) PR
D3ZUU2 Gzf1 GDNF-inducible zinc finger protein 1 Rattus norvegicus (Rat) PR
B1WBU4 Zbtb8a Zinc finger and BTB domain-containing protein 8A Rattus norvegicus (Rat) PR
Q7TNK3 Znf24 Zinc finger protein 24 Rattus norvegicus (Rat) PR
O35819 Klf6 Krueppel-like factor 6 Rattus norvegicus (Rat) PR
Q9R1D1 Ctcf Transcriptional repressor CTCF Rattus norvegicus (Rat) PR
P43301 Egr3 Early growth response protein 3 Rattus norvegicus (Rat) PR
P08154 Egr1 Early growth response protein 1 Rattus norvegicus (Rat) PR
A0JPL0 Znf382 Zinc finger protein 382 Rattus norvegicus (Rat) PR
Q4KLI1 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Rattus norvegicus (Rat) PR
A1L1J6 Znf652 Zinc finger protein 652 Rattus norvegicus (Rat) PR
Q9SHD0 ZAT4 Zinc finger protein ZAT4 Arabidopsis thaliana (Mouse-ear cress) PR
Q0P4X6 zbtb44 Zinc finger and BTB domain-containing protein 44 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
A4II20 egr1 Early growth response protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6P882 zbtb8a.2 Zinc finger and BTB domain-containing protein 8A.2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q567C6 znf367 Zinc finger protein 367 Danio rerio (Zebrafish) (Brachydanio rerio) PR
A7Y7X5 znf711 Zinc finger protein 711 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MPSPLGPPCL PVMDPETTLE EPETARLRFR GFCYQEVAGP REALARLREL CCQWLQPEAH
70 80 90 100 110 120
SKEQMLEMLV LEQFLGTLPP EIQAWVRGQR PGSPEEAAAL VEGLQHDPGQ LLGWITAHVL
130 140 150 160 170 180
KQEVLPAAQK TEEPLGSPHP SGTVESPGEG PQDTRIEGSV QLSCSVKEEP NVDGQEVAPS
190 200 210 220 230 240
SPPLAAQSPE GNHGHQEPAS TSFHPPRIQE EWGLLDRSQK ELYWDAMLEK YGTVVSLGLP
250 260 270 280 290 300
PHQPEAQAQS ELGMLLTGTG VCRSLRSGNE SEGPPGCPEA QPPQGPGPAA WEGLSGAATP
310 320 330 340 350 360
APTVRPGTPP VPTQPTPAET RLEPAATPRK PYTCEQCGRG FDWKSVFVIH HRTHTSGPGV
370 380 390 400 410 420
QSPGLATGES TEKPPQGEVA FPHHPRRSLT GPRSYPCEEC GCSFSWKSQL VIHRKSHTGQ
430 440
RRHFCSDCGR AFDWKSQLVI HRKGHRPEVP