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 Q9NUQ8

Entry ID Method Resolution Chain Position Source
AF-Q9NUQ8-F1 Predicted AlphaFoldDB

596 variants for Q9NUQ8

Variant ID(s) Position Change Description Diseaes Association Provenance
COSM1178192
RCV000149252
CA174652
rs143852274
443 R>W Malignant tumor of prostate prostate [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
ESP
ExAC
dbSNP
gnomAD
CA355431716
rs1220075495
2 A>T No ClinGen
TOPMed
CA2727957
rs774059077
3 T>I No ClinGen
ExAC
gnomAD
CA355431735
rs1321044875
3 T>S No ClinGen
TOPMed
rs767358501
CA2727959
4 C>Y No ClinGen
ExAC
gnomAD
rs752511727
CA2727960
5 A>P No ClinGen
ExAC
gnomAD
rs752511727
CA355431766
5 A>T No ClinGen
ExAC
gnomAD
rs1203509130
CA355431782
6 E>D No ClinGen
TOPMed
gnomAD
CA88864792
rs1055647101
6 E>K No ClinGen
Ensembl
rs760701711
CA2727961
7 I>T No ClinGen
ExAC
gnomAD
CA2727964
rs202156124
8 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780407881
CA2727965
9 R>L No ClinGen
ExAC
gnomAD
CA355431810
rs1429400215
10 S>G No ClinGen
gnomAD
rs1170874612
CA355431816
10 S>I No ClinGen
gnomAD
CA2727966
rs145190425
10 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1335945997
CA355431851
13 P>S No ClinGen
gnomAD
CA355431864
rs1367787572
14 E>Q No ClinGen
TOPMed
CA2727969
rs748555013
15 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA2727971
rs778290934
17 G>R No ClinGen
ExAC
gnomAD
CA355431942
rs11539876
18 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA355431935
rs1457899216
18 Q>R No ClinGen
TOPMed
rs1214861909
CA355431944
19 V>I No ClinGen
gnomAD
rs770488288
CA2727973
20 F>L No ClinGen
ExAC
gnomAD
CA355431970
rs1411121375
20 F>L No ClinGen
TOPMed
rs1321774870
CA355431964
20 F>S No ClinGen
TOPMed
gnomAD
rs1321774870
CA355431963
20 F>Y No ClinGen
TOPMed
gnomAD
CA355431983
rs1332554195
21 D>G No ClinGen
TOPMed
gnomAD
CA2727977
rs775382149
24 T>S No ClinGen
ExAC
gnomAD
CA2727976
rs771727668
24 T>S No ClinGen
ExAC
gnomAD
CA355432037
rs1486238861
25 G>S No ClinGen
gnomAD
rs1404027152
CA355432142
25 G>V No ClinGen
TOPMed
gnomAD
CA355432143
rs1303386695
26 V>I No ClinGen
gnomAD
rs764447673
CA2728008
27 L>* No ClinGen
ExAC
gnomAD
rs754304411
CA2728009
28 H>N No ClinGen
ExAC
gnomAD
rs1279448171
CA355432179
29 S>N No ClinGen
gnomAD
rs375117891
CA2728011
31 S>I No ClinGen
ESP
ExAC
gnomAD
CA2728012
rs749921784
32 A>V No ClinGen
ExAC
gnomAD
CA88865017
rs757916333
33 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs150309219
CA2728014
34 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA88865030
rs1028792785
35 E>Q No ClinGen
TOPMed
CA2728016
rs11539877
38 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1316300769
CA355432275
41 V>E No ClinGen
TOPMed
rs1316300769
CA355432277
41 V>G No ClinGen
TOPMed
rs1353672518
CA355432274
41 V>M No ClinGen
TOPMed
CA355432290
rs1452745146
43 A>V No ClinGen
TOPMed
gnomAD
rs138919469
CA2728018
44 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA355432300
rs1295847995
45 G>E No ClinGen
Ensembl
CA2728019
rs779378473
46 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs759647087
CA2728021
49 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs772058753
CA2728022
50 E>K No ClinGen
ExAC
gnomAD
CA88865076
rs201672991
53 G>R No ClinGen
gnomAD
rs1378277373
CA355432356
54 D>V No ClinGen
gnomAD
CA2728026
rs764394703
54 D>Y No ClinGen
ExAC
gnomAD
rs201055346
CA2728028
55 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1456267170
CA355432363
55 S>N No ClinGen
gnomAD
rs1382048932
CA355432385
58 D>N No ClinGen
TOPMed
gnomAD
CA2728030
COSM1660352
rs750953380
59 A>T kidney [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs757853660
CA2728031
59 A>V No ClinGen
ExAC
gnomAD
rs1429391295
CA355432397
60 G>S No ClinGen
TOPMed
CA355432404
rs1392749675
61 I>F No ClinGen
gnomAD
CA355432408
rs200504385
61 I>M No ClinGen
1000Genomes
TOPMed
gnomAD
TCGA novel 62 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355432417
rs751171706
63 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA2728033
rs751171706
63 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA2728034
rs754653611
63 A>V No ClinGen
ExAC
gnomAD
CA355432438
rs1443438069
66 Q>R No ClinGen
gnomAD
CA355432445
rs1369816500
67 R>H No ClinGen
gnomAD
COSM1421285
rs377432816
CA88865093
69 Y>C large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
NCI-TCGA
TCGA novel 69 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs142977572
CA2728037
73 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA355432483
rs1401393558
73 R>S No ClinGen
gnomAD
rs1010857764
CA88865209
75 A>S No ClinGen
TOPMed
gnomAD
CA355432507
rs1010857764
75 A>T No ClinGen
TOPMed
gnomAD
rs773424973
CA2728066
75 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs763414518
CA2728067
77 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA2728068
rs766789760
79 S>C No ClinGen
ExAC
gnomAD
CA2728069
rs775055752
79 S>N No ClinGen
ExAC
gnomAD
rs1453108471
CA355432543
80 Q>L No ClinGen
gnomAD
rs1465358336
CA355432546
81 G>R No ClinGen
TOPMed
rs1430213547
CA355432561
83 S>G No ClinGen
TOPMed
rs1159381162
CA355432572
84 Q>R No ClinGen
gnomAD
rs755854994
CA2728073
89 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs144267642
CA2728072
89 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755854994
CA355432603
89 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA2728074
rs763857323
90 P>S No ClinGen
ExAC
gnomAD
CA2728076
rs753548316
91 I>V No ClinGen
ExAC
gnomAD
CA2728077
rs757145557
COSM729580
92 Q>* lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
CA355432618
rs1286196458
92 Q>R No ClinGen
gnomAD
rs778706360
CA2728078
95 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA2728079
rs745822416
97 T>M No ClinGen
ExAC
gnomAD
CA355432667
rs1488989021
99 N>I No ClinGen
TOPMed
gnomAD
CA2728081
rs781268248
99 N>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 100 Y>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776209326
CA2728109
101 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA2728110
rs371271976
103 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728111
rs148745781
106 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA88865599
rs932434966
108 G>E No ClinGen
Ensembl
CA355433361
rs1449613075
111 K>R No ClinGen
gnomAD
rs571509847
CA2728115
112 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA88865614
rs532733910
116 S>L No ClinGen
1000Genomes
TOPMed
gnomAD
CA2728131
rs776180692
117 T>A No ClinGen
ExAC
gnomAD
CA355433553
rs747647815
117 T>I No ClinGen
ExAC
gnomAD
rs747647815
CA2728132
117 T>R No ClinGen
ExAC
gnomAD
rs769429078
CA2728133
118 V>A No ClinGen
ExAC
gnomAD
CA88865809
rs976527943
119 N>S No ClinGen
Ensembl
rs1197953977
CA355433604
120 A>T No ClinGen
gnomAD
rs1340485364
CA355433669
122 K>N No ClinGen
TOPMed
gnomAD
rs772905856
CA2728134
122 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA355433719
rs1379118076
125 K>R No ClinGen
TOPMed
TCGA novel 125 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766166794
CA2728136
127 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA355433779
rs1446400997
128 A>V No ClinGen
TOPMed
CA355433781
rs1379081149
129 R>* No ClinGen
gnomAD
rs774115969
CA2728137
129 R>Q No ClinGen
ExAC
gnomAD
CA355433787
rs1341274664
130 L>I No ClinGen
TOPMed
CA355433796
rs1336605589
130 L>P No ClinGen
TOPMed
rs577802794
CA88865823
132 A>V No ClinGen
1000Genomes
CA355433924
rs1160045918
137 R>C No ClinGen
gnomAD
rs755216413
CA2728138
137 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1036329869
CA88865824
140 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 141 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355433989
rs1341785151
141 D>H No ClinGen
Ensembl
rs142247095
CA2728139
142 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1377676325
CA355434070
145 T>S No ClinGen
gnomAD
rs150836379
CA2728141
147 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728140
rs150836379
147 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150861556
CA2728143
148 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA2728171
rs139755844
150 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1318342082
CA355434350
154 A>S No ClinGen
gnomAD
rs1254201389
CA355434397
156 A>V No ClinGen
gnomAD
CA2728174
rs745664105
157 S>T No ClinGen
ExAC
gnomAD
TCGA novel 159 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs999472480
CA88865967
160 G>S No ClinGen
gnomAD
rs1280268862
CA355434484
161 S>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA355434491
rs1487137532
161 S>R No ClinGen
gnomAD
CA88865994
rs145313249
166 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145313249
CA2728176
166 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771778897
CA2728175
166 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1577066051
CA355434620
167 L>V No ClinGen
Ensembl
CA88866012
rs201288644
168 E>G No ClinGen
Ensembl
CA355434667
rs1382451880
169 S>* No ClinGen
Ensembl
rs147647724
CA2728179
170 S>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728180
rs763189066
170 S>C No ClinGen
ExAC
gnomAD
rs1466600701
CA355434703
171 G>S No ClinGen
gnomAD
CA355434731
rs1334426286
172 K>E No ClinGen
TOPMed
CA355434754
rs1174453477
172 K>N No ClinGen
gnomAD
rs766606565
CA2728181
175 S>C No ClinGen
ExAC
gnomAD
rs1037016398
CA355434848
177 D>E No ClinGen
TOPMed
gnomAD
TCGA novel 177 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355434869
COSM1041947
rs1339124014
179 R>* Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1299047335
CA355434873
179 R>L No ClinGen
TOPMed
gnomAD
CA355434871
rs1299047335
179 R>Q No ClinGen
TOPMed
gnomAD
CA355434886
rs1340845496
180 I>T No ClinGen
gnomAD
rs550666332
CA88866038
182 N>K No ClinGen
TOPMed
gnomAD
rs751740928
CA2728182
CA2728183
183 F>L No ClinGen
ExAC
gnomAD
rs1330498916
CA355434991
184 D>E No ClinGen
gnomAD
CA2728184
rs767802517
185 V>A No ClinGen
ExAC
CA2728185
rs753152768
186 S>F No ClinGen
ExAC
gnomAD
rs1260627631
CA355435025
187 F>S No ClinGen
gnomAD
rs1324936979
CA355435050
188 G>A No ClinGen
TOPMed
rs778292936
CA2728187
189 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs756591208
CA2728186
189 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA355435153
rs1458240306
191 V>I No ClinGen
gnomAD
CA2728210
rs757952970
196 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs746799914
CA355435243
197 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA2728212
rs746799914
197 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA355435272
rs1393874974
198 V>M No ClinGen
gnomAD
CA355435295
rs1311605472
199 N>I No ClinGen
TOPMed
gnomAD
rs1311605472
CA355435291
199 N>T No ClinGen
TOPMed
gnomAD
rs201744647
CA88866188
202 W>G No ClinGen
Ensembl
TCGA novel 203 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1235578376
CA355435390
203 G>R No ClinGen
TOPMed
gnomAD
rs1235578376
CA355435388
203 G>S No ClinGen
TOPMed
gnomAD
rs748060492
CA2728215
204 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs532627156
CA2728216
204 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2728217
rs532627156
204 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2728218
rs199665518
205 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA2728219
COSM1421287
rs772268623
205 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1370699821
CA355435457
207 G>E No ClinGen
TOPMed
rs916857446
CA88866204
207 G>R No ClinGen
gnomAD
rs760962119
CA2728221
208 L>V No ClinGen
ExAC
gnomAD
CA355435487
rs1577066364
209 V>G No ClinGen
Ensembl
rs566108440
CA2728224
211 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777071943
CA2728223
211 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA355435527
rs1577066377
212 N>D No ClinGen
Ensembl
rs1466315252
CA355435580
214 L>F No ClinGen
TOPMed
CA355435569
rs1577066389
214 L>V No ClinGen
Ensembl
CA355435600
rs1577066395
216 K>E No ClinGen
Ensembl
rs766065416
CA2728228
218 T>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 221 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754774008
CA2728230
222 M>I No ClinGen
ExAC
gnomAD
rs1416992763
CA355435743
223 L>V No ClinGen
gnomAD
CA2728231
rs781166608
224 A>G No ClinGen
ExAC
gnomAD
TCGA novel 225 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 225 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755983326
CA2728233
226 R>G No ClinGen
ExAC
gnomAD
rs1434017454
CA355435796
226 R>Q No ClinGen
TOPMed
CA355435794
rs755983326
226 R>W No ClinGen
ExAC
gnomAD
rs1209556706
CA355435814
227 S>C No ClinGen
gnomAD
CA2728236
rs772142140
227 S>R No ClinGen
ExAC
gnomAD
rs747252180
CA355435856
229 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs747252180
CA2728238
229 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2728237
rs775630869
229 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2728239
rs768965312
231 P>A No ClinGen
ExAC
gnomAD
rs1044314437
CA88866262
234 I>V No ClinGen
TOPMed
rs924023051
CA88866265
235 S>F No ClinGen
Ensembl
rs776826785
CA2728240
235 S>T No ClinGen
ExAC
gnomAD
CA355435960
rs924023051
235 S>Y No ClinGen
Ensembl
CA88866266
rs1040316094
236 L>P No ClinGen
gnomAD
rs1040316094
CA88866267
236 L>R No ClinGen
gnomAD
rs762282860
CA2728241
236 L>V No ClinGen
ExAC
TOPMed
rs1412244799
CA355436006
238 H>P No ClinGen
gnomAD
CA355436003
rs1484411184
238 H>Y No ClinGen
TOPMed
rs371929198
CA2728243
239 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766012470
CA2728245
243 V>L No ClinGen
ExAC
gnomAD
rs1360234343
CA355436127
244 A>V No ClinGen
gnomAD
CA88866292
rs996171092
247 D>G No ClinGen
Ensembl
rs775078652
CA88866291
247 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs754647500
CA2728247
248 T>N No ClinGen
ExAC
gnomAD
CA2728249
rs752421986
249 P>L No ClinGen
ExAC
gnomAD
CA2728250
rs548656680
250 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2728251
rs548656680
250 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA355436206
rs1351751856
251 L>P No ClinGen
gnomAD
rs367593462
CA2728254
256 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA355436295
rs1477037260
257 S>R No ClinGen
gnomAD
rs143440886
CA2728257
259 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143440886
CA2728258
259 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728256
rs148862810
259 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM209021
CA2728259
rs372824554
261 R>* large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs537433591
CA2728260
263 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs537433591
CA2728261
263 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2728262
rs377167160
263 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA88866327
rs537433591
263 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA355436409
rs369613863
266 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369613863
CA2728265
266 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs556532781
CA2728264
266 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA2728266
rs752398179
267 R>S No ClinGen
ExAC
gnomAD
rs1416221957
CA355436431
268 E>K No ClinGen
TOPMed
CA2728269
rs763969682
269 R>L No ClinGen
ExAC
gnomAD
CA2728268
rs763969682
269 R>Q No ClinGen
ExAC
gnomAD
rs760328153
CA2728267
269 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1354765075
CA355436460
270 E>A No ClinGen
gnomAD
rs757152658
CA2728270
271 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA355436481
rs1286002426
272 T>A No ClinGen
TOPMed
gnomAD
rs146433540
CA2728273
274 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146433540
CA2728272
274 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781218125
CA2728274
275 I>F No ClinGen
ExAC
gnomAD
CA2728276
rs770016347
278 G>S No ClinGen
ExAC
gnomAD
rs768337975
CA2728302
280 A>T No ClinGen
ExAC
gnomAD
CA2728303
rs376213461
COSM1041950
280 A>V Variant assessed as Somatic; 0.000139 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 281 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2728305
rs765043602
281 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1339438275
CA355436723
282 G>A No ClinGen
gnomAD
rs773096504
CA2728306
283 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs897099448
CA88866674
283 S>P No ClinGen
Ensembl
rs762919206
CA2728307
285 A>P No ClinGen
ExAC
gnomAD
CA2728308
rs766278119
285 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA355436805
rs1300088441
287 E>G No ClinGen
Ensembl
CA2728312
rs754126039
288 L>R No ClinGen
ExAC
gnomAD
rs764346153
CA2728311
288 L>V No ClinGen
ExAC
gnomAD
CA2728313
rs531703061
289 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779450195
CA2728314
290 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA355436854
rs1170952363
291 I>V No ClinGen
gnomAD
CA2728318
rs746520389
292 Y>* No ClinGen
ExAC
gnomAD
CA2728317
rs61745345
292 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 292 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2728316
rs61745345
292 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728319
rs570723162
294 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA355436912
rs1397957714
295 L>R No ClinGen
TOPMed
gnomAD
CA88866733
rs1012414142
298 I>T No ClinGen
TOPMed
gnomAD
TCGA novel 299 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355436997
rs1282241997
300 A>V No ClinGen
TOPMed
rs747832907
CA355437022
301 D>E No ClinGen
ExAC
gnomAD
CA88866734
rs201803188
301 D>V No ClinGen
Ensembl
CA2728323
rs772971982
303 A>G No ClinGen
ExAC
gnomAD
CA2728322
rs769478302
303 A>S No ClinGen
ExAC
gnomAD
rs769478302
CA355437047
303 A>T No ClinGen
ExAC
gnomAD
CA2728324
rs772971982
303 A>V No ClinGen
ExAC
gnomAD
rs1282057123
CA355437090
305 A>V No ClinGen
TOPMed
gnomAD
rs1560134049 306 R>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs766338319
CA2728325
306 R>T No ClinGen
ExAC
gnomAD
CA2728346
rs749046605
307 A>T No ClinGen
ExAC
gnomAD
CA355437204
rs1334537486
311 L>F No ClinGen
TOPMed
rs772174151
CA355437224
312 A>D No ClinGen
ExAC
gnomAD
rs772174151
CA2728350
312 A>G No ClinGen
ExAC
gnomAD
CA2728348
rs565912154
312 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2728349
rs565912154
312 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2728351
rs776829212
313 G>E No ClinGen
ExAC
gnomAD
CA2728353
rs765550382
314 L>R No ClinGen
ExAC
gnomAD
rs763316425
CA2728355
317 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA2728357
rs751999825
318 P>L No ClinGen
ExAC
gnomAD
rs1336204178
CA355437305
318 P>S No ClinGen
gnomAD
TCGA novel 320 M>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2728358
rs554276240
320 M>K No ClinGen
1000Genomes
ExAC
gnomAD
rs781709530
CA2728359
321 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs781709530
CA355437344
321 Q>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 322 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355437394
rs1327419802
324 P>L No ClinGen
TOPMed
rs752200302
CA2728360
325 T>S No ClinGen
ExAC
gnomAD
rs142912170
CA88866837
326 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374622062
CA2728363
326 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374622062
CA2728362
326 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs142912170
CA2728361
326 R>W Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753216234
CA2728378
327 E>A No ClinGen
ExAC
gnomAD
rs1189940364
CA355437481
329 S>L No ClinGen
gnomAD
rs1427396570
CA355437543
335 R>K No ClinGen
TOPMed
gnomAD
CA355437546
rs1427396570
335 R>M No ClinGen
TOPMed
gnomAD
CA2728380
rs763543678
339 A>T No ClinGen
ExAC
gnomAD
CA2728382
rs371486351
340 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150245456
CA2728381
340 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 341 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2728383
rs778684167
343 F>I No ClinGen
ExAC
gnomAD
CA2728384
rs376318287
344 A>G No ClinGen
ESP
ExAC
TOPMed
CA88866955
rs376318287
344 A>V No ClinGen
ESP
ExAC
TOPMed
CA355437702
rs1432034683
347 D>G No ClinGen
gnomAD
CA88867018
rs941231948
349 L>V No ClinGen
TOPMed
gnomAD
rs559787852
CA2728401
350 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1255966225
CA355377487
355 T>A No ClinGen
TOPMed
rs764823398
CA2728420
355 T>K No ClinGen
ExAC
gnomAD
CA2728422
rs762676043
362 A>G No ClinGen
ExAC
gnomAD
CA2728423
rs766194967
363 I>V No ClinGen
ExAC
gnomAD
rs1577067408
CA355377578
364 L>V No ClinGen
Ensembl
rs200262122
CA2728424
367 E>G No ClinGen
ExAC
gnomAD
rs1212993166
CA355377619
368 N>D No ClinGen
gnomAD
CA2728425
rs754809586
368 N>S No ClinGen
ExAC
gnomAD
CA2728426
rs780933877
370 L>M No ClinGen
ExAC
gnomAD
rs1231993077
CA355377651
371 Q>R No ClinGen
gnomAD
CA2728453
rs199952896
372 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728454
rs199952896
372 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA355377718
rs1269021517
374 P>R No ClinGen
gnomAD
rs773864206
CA2728457
375 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1464881328
CA355377722
375 S>T No ClinGen
gnomAD
rs1577067582
CA355377731
376 T>P No ClinGen
Ensembl
rs149387226
CA2728459
380 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728460
rs200506364
381 S>C No ClinGen
1000Genomes
ExAC
gnomAD
rs1577067612
CA355377799
383 D>A No ClinGen
Ensembl
rs767126017
CA88843508
383 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2728462
rs767126017
383 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs760528913
COSM1421289
CA2728464
384 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs763952670
CA2728465
384 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs760528913
CA355377806
384 R>S No ClinGen
ExAC
gnomAD
rs200044199
CA2728467
385 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA355377833
rs1250950364
386 F>C No ClinGen
TOPMed
CA2728468
rs377162661
390 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs535145654
CA2728470
391 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA2728471
rs781339240
394 I>V No ClinGen
ExAC
gnomAD
CA355377936
rs1577067665
396 H>P No ClinGen
Ensembl
rs756564980
CA2728473
396 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1427927279
CA355377952
398 H>Y No ClinGen
gnomAD
CA2728477
rs773891519
401 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs536755264
CA2728476
401 R>W No ClinGen
1000Genomes
ExAC
gnomAD
rs558367683
CA2728478
403 D>V No ClinGen
1000Genomes
ExAC
gnomAD
rs771750327
CA2728479
404 G>D No ClinGen
ExAC
gnomAD
rs144668306
CA88843565
404 G>R No ClinGen
ESP
TOPMed
gnomAD
rs775010133
CA355378031
406 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA355378034
rs200704241
406 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA2728481
rs200704241
406 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs775010133
CA2728480
406 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1252607889
CA355378101
413 I>L No ClinGen
gnomAD
CA2728482
rs763895464
415 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA2728483
rs776507091
416 K>T No ClinGen
ExAC
gnomAD
rs1379114249
CA355378155
418 E>K No ClinGen
gnomAD
CA2728486
rs751658391
419 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs774957824
CA2728485
419 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755019939
CA2728487
421 L>F No ClinGen
ExAC
gnomAD
rs1560134797
CA355378185
421 L>P No ClinGen
Ensembl
rs755019939
CA355378181
421 L>V No ClinGen
ExAC
gnomAD
CA88843627
rs759982267
422 N>D No ClinGen
gnomAD
CA355378202
rs1441117149
423 Q>H No ClinGen
gnomAD
rs752993916
CA2728489
424 Q>* No ClinGen
ExAC
gnomAD
rs1334317279
CA355378211
425 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs756508009
CA2728490
425 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs778251699
CA2728491
426 E>K No ClinGen
ExAC
gnomAD
CA88843648
rs892903172
428 E>A No ClinGen
TOPMed
TCGA novel 429 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA88843652
rs370468144
429 A>V No ClinGen
ESP
TOPMed
gnomAD
CA355378248
rs1282919493
430 Q>* No ClinGen
gnomAD
CA2728492
rs754304216
430 Q>R No ClinGen
ExAC
gnomAD
rs757827863
CA2728493
431 Q>* No ClinGen
ExAC
gnomAD
rs779352957
CA2728495
433 Y>D No ClinGen
ExAC
gnomAD
rs779352957
CA2728494
433 Y>H No ClinGen
ExAC
gnomAD
CA2728496
rs771494683
434 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA355378313
rs1417065045
435 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA355378330
rs1230278563
437 I>V No ClinGen
gnomAD
CA2728523
rs773165479
439 V>L No ClinGen
ExAC
gnomAD
CA355378435
rs1183541114
443 R>Q No ClinGen
TOPMed
gnomAD
CA2728524
rs770951242
445 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775699975
CA2728525
445 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA355378463
rs1560135030
446 Y>C No ClinGen
Ensembl
CA2728526
rs760906160
447 N>S No ClinGen
ExAC
gnomAD
rs754124303
CA2728528
448 A>D No ClinGen
ExAC
gnomAD
rs371408583
CA2728529
449 N>S No ClinGen
ESP
ExAC
gnomAD
CA355378502
rs1376453998
450 R>G No ClinGen
gnomAD
TCGA novel 451 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1335260183
CA355378520
451 A>V No ClinGen
gnomAD
rs758805447
CA2728532
453 Q>H No ClinGen
ExAC
gnomAD
CA2728531
rs750835840
453 Q>R No ClinGen
ExAC
gnomAD
CA355378548
rs1382899470
454 V>A No ClinGen
gnomAD
rs766926313
CA2728533
456 S>N No ClinGen
ExAC
gnomAD
CA2728534
rs751062639
457 K>N No ClinGen
ExAC
CA2728535
rs754500563
459 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1237452494
CA355378629
462 E>Q No ClinGen
TOPMed
gnomAD
rs764120497
CA2728537
463 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1212111256
CA355378646
463 K>N No ClinGen
TOPMed
gnomAD
CA88843854
rs764120497
463 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA88844456
rs41266257
465 P>R No ClinGen
Ensembl
CA2728568
rs763181508
466 E>A No ClinGen
ExAC
gnomAD
rs1332010399
CA355378752
466 E>Q No ClinGen
gnomAD
rs774741546
CA2728570
469 P>T No ClinGen
ExAC
gnomAD
rs75299103
CA2728571
471 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA88844471
rs768071356
472 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs768071356
CA2728572
472 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1416412014
CA355378852
475 E>D No ClinGen
gnomAD
rs760239106
CA2728574
476 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA355378872
rs1477993289
477 V>E No ClinGen
TOPMed
rs757077577
CA2728577
477 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1408372722
CA355378887
478 M>I No ClinGen
gnomAD
CA355378931
rs1411579937
480 F>V No ClinGen
TOPMed
CA2728594
rs375122344
484 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761530254
CA2728595
486 K>* No ClinGen
ExAC
gnomAD
rs900315824
CA88844544
486 K>N No ClinGen
TOPMed
gnomAD
CA2728596
rs765039315
488 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779795407
CA2728599
489 P>L No ClinGen
ExAC
gnomAD
rs758271318
CA2728598
489 P>S No ClinGen
ExAC
gnomAD
rs140615216
CA2728601
491 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs886197544
CA88844566
492 L>V No ClinGen
Ensembl
CA355379069
rs1280210191
493 Q>P No ClinGen
gnomAD
CA2728602
rs777887587
495 D>G No ClinGen
ExAC
gnomAD
CA2728603
rs142165315
496 E>K No ClinGen
ESP
ExAC
gnomAD
TCGA novel 501 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1560135942
CA355379155
501 Y>D No ClinGen
Ensembl
rs202158328
CA88844592
502 D>G No ClinGen
1000Genomes
rs75824087
CA2728605
502 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2728606
rs75824087
502 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs11706273
CA2728607
VAR_027247
503 P>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1365318681
CA355379188
504 K>E No ClinGen
gnomAD
CA355379207
rs1436772866
505 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2728610
rs113949696
506 V>F No ClinGen
ExAC
gnomAD
CA88844615
rs113949696
506 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2728613
rs761481003
507 I>M No ClinGen
ExAC
gnomAD
CA2728611
rs776267018
507 I>V No ClinGen
ExAC
gnomAD
rs773011089
CA2728614
509 S>I No ClinGen
ExAC
gnomAD
rs61750939
CA2728615
510 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728616
VAR_027248
rs9811715
510 R>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs61750939
CA355379255
510 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754930838
CA2728618
512 S>C No ClinGen
ExAC
gnomAD
CA2728620
rs767424582
513 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA2728619
rs767424582
513 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA355379284
rs1379166310
515 A>S No ClinGen
gnomAD
rs1379166310
CA355379281
515 A>T No ClinGen
gnomAD
rs757346305
CA2728621
516 D>H No ClinGen
ExAC
gnomAD
CA2728623
rs746118103
518 E>K No ClinGen
ExAC
gnomAD
CA355379328
rs1458399592
519 S>P No ClinGen
TOPMed
gnomAD
CA355379326
rs1458399592
519 S>T No ClinGen
TOPMed
gnomAD
rs1301386278
CA355379339
520 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA355379346
rs1323468116
521 I>V No ClinGen
gnomAD
CA2728624
rs758584828
522 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2728649
rs781744829
528 G>A No ClinGen
ExAC
gnomAD
CA355379689
rs781744829
528 G>E No ClinGen
ExAC
gnomAD
TCGA novel 531 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355379724
COSM380571
rs1166445956
534 M>V lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA2728650
rs144608944
538 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1005979926
CA355379764
540 G>A No ClinGen
TOPMed
gnomAD
rs1005979926
CA88845329
540 G>E No ClinGen
TOPMed
gnomAD
rs371774792
CA2728651
540 G>R No ClinGen
ESP
ExAC
gnomAD
CA2728652
rs772836709
541 D>A No ClinGen
ExAC
gnomAD
TCGA novel 544 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355379796
rs146621973
546 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1364649462
CA355379797
546 R>Q No ClinGen
gnomAD
rs146621973
COSM242745
CA2728654
546 R>W prostate [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs149230371
CA2728655
549 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759330112
CA2728656
550 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs775301972
CA2728659
551 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2728658
rs775301972
551 A>T No ClinGen
ExAC
gnomAD
rs1436035231
CA355379857
554 N>H No ClinGen
gnomAD
CA355379860
rs1429417369
554 N>S No ClinGen
TOPMed
rs1368075299
CA355379882
557 I>M No ClinGen
gnomAD
CA2728686
rs118183801
557 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1220843780
CA355379888
558 G>V No ClinGen
gnomAD
rs767510133
CA88845549
559 Y>C No ClinGen
Ensembl
CA2728687
rs143335442
561 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA355379941
rs1228538846
566 E>K No ClinGen
gnomAD
rs958876415
CA88845574
567 Q>H No ClinGen
TOPMed
gnomAD
rs373766540
CA2728689
572 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1220406645
CA355379988
573 S>G No ClinGen
gnomAD
CA88845581
rs1012680356
574 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA355380017
rs1489696749
576 E>* No ClinGen
gnomAD
rs778260852
CA355380048
579 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs778260852
CA2728690
579 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs745439537
CA2728691
580 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA2728692
rs201135553
580 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA355380066
rs201135553
580 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs745439537
CA355380058
580 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA355380098
rs1444604881
582 F>L No ClinGen
TOPMed
CA2728710
rs767733762
585 R>P No ClinGen
ExAC
gnomAD
rs767733762
CA355380180
585 R>Q No ClinGen
ExAC
gnomAD
CA2728709
rs373058650
585 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs1338172672
CA355380184
586 P>A No ClinGen
gnomAD
TCGA novel 586 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355380231
rs1246962226
589 E>A No ClinGen
TOPMed
rs1283908771
CA355380229
589 E>Q No ClinGen
TOPMed
CA2728713
rs200451515
COSM1316686
591 R>C Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2728714
rs780837743
591 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA2728715
rs748045117
592 H>Q No ClinGen
ExAC
gnomAD
rs148358991
CA2728718
596 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728717
rs148358991
596 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728716
rs751570547
596 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1159045349
CA355380280
597 Y>F No ClinGen
gnomAD
rs1441909589
CA355380293
599 I>T No ClinGen
gnomAD
CA2728720
rs536637150
601 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 604 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355380332
rs1389290363
605 M>I No ClinGen
gnomAD
CA2728722
rs764432302
605 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1304182297
CA355380328
605 M>V No ClinGen
gnomAD
rs776852066
CA2728723
606 R>C Variant assessed as Somatic; 5.198e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2728724
rs756321624
COSM1041958
606 R>H endometrium Variant assessed as Somatic; 0.0004154 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs981653219
CA88845805
607 P>R No ClinGen
TOPMed
rs765601301
CA2728725
607 P>S No ClinGen
ExAC
gnomAD
CA355380358
rs1407691051
610 S>N No ClinGen
gnomAD
TCGA novel 613 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1366360693
CA355380380
614 G>S No ClinGen
TOPMed
gnomAD
CA355380399
rs1231159180
616 K>R No ClinGen
gnomAD
CA2728728
rs765841551
617 S>R No ClinGen
ExAC
gnomAD
rs1344849160
CA355380410
COSM1181379
618 R>* large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs141535158
CA2728729
618 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201169869
CA2728730
619 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1248946865
CA355380469
626 M>I No ClinGen
gnomAD
CA2728732
rs747841183
627 P>L No ClinGen
ExAC
gnomAD
TCGA novel 628 C>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1560137699
CA355380477
628 C>R No ClinGen
Ensembl
CA2728749
rs767029746
628 C>W No ClinGen
ExAC
TOPMed
gnomAD
CA355380495
rs998657560
629 P>A No ClinGen
gnomAD
rs998657560
CA88845926
629 P>S No ClinGen
gnomAD
CA88845930
rs1031939244
632 Y>C No ClinGen
Ensembl
rs1289018097
CA355380523
633 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 636 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755766110
CA2728751
638 T>A No ClinGen
ExAC
rs753746608
CA2728753
643 M>V No ClinGen
ExAC
gnomAD
rs757253470
CA2728754
644 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA2728755
rs778995740
645 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs768800066
CA2728757
646 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA355380611
rs1293689494
646 I>V No ClinGen
gnomAD
rs1209436530
CA355380618
647 E>A No ClinGen
TOPMed
rs781230642
CA2728758
647 E>K No ClinGen
ExAC
gnomAD
rs748370382
CA2728759
651 R>C No ClinGen
ExAC
gnomAD
rs150420700
CA2728760
651 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 651 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355380659
rs1253393698
654 N>S No ClinGen
TOPMed
CA355380668
rs1458101019
655 N>S No ClinGen
TOPMed
gnomAD
CA355380702
rs1397718980
658 G>D No ClinGen
gnomAD
TCGA novel 659 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355380733
rs1461412671
663 V>A No ClinGen
gnomAD
CA355380729
rs1264378401
663 V>L No ClinGen
TOPMed
CA355380739
rs972896708
664 S>C No ClinGen
gnomAD
rs972896708
CA88846020
664 S>F No ClinGen
gnomAD
rs776443439
CA2728788
666 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs981982530
CA88846034
666 D>N No ClinGen
TOPMed
CA2728790
rs150178606
668 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA355380764
rs1176024559
668 R>H No ClinGen
TOPMed
gnomAD
rs750232742
CA2728791
671 R>K No ClinGen
ExAC
gnomAD
rs750232742
CA355380784
671 R>T No ClinGen
ExAC
gnomAD
CA2728792
rs758342124
672 L>Q No ClinGen
ExAC
gnomAD
rs991308869
COSM1421294
CA88846055
673 V>A large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA2728793
rs374116042
673 V>L No ClinGen
ESP
ExAC
gnomAD
CA88846053
rs374116042
673 V>M No ClinGen
ESP
ExAC
gnomAD
CA355380800
rs1389531207
674 C>F No ClinGen
TOPMed
CA355380804
rs1289181548
675 R>Q No ClinGen
gnomAD
CA2728794
rs752765756
COSM242744
675 R>W prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA2728797
rs749482988
681 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2728798
rs757526982
682 G>R No ClinGen
ExAC
gnomAD
CA2728800
rs373943822
684 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728801
rs373943822
684 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728804
rs768310814
685 V>G No ClinGen
ExAC
gnomAD
CA2728803
rs746466778
685 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA355380872
rs1244161674
686 T>A No ClinGen
gnomAD
rs147258210
CA2728805
687 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2728806
rs76223160
687 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA355380933
rs1156961244
694 Q>E No ClinGen
gnomAD
rs1577071552
CA355380950
695 Y>S No ClinGen
Ensembl
rs762669825
CA2728809
696 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs140602070
CA2728810
696 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs191518353
CA2728813
697 A>D No ClinGen
1000Genomes
ExAC
gnomAD
rs149333240
CA2728812
697 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA88846125
rs191518353
697 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA2728814
rs753979086
699 L>F No ClinGen
ExAC
gnomAD
CA355381021
rs1262170214
701 E>G No ClinGen
TOPMed
CA355381048
rs1237483674
703 F>Y No ClinGen
TOPMed
COSM1421295
CA2728816
rs779011033
704 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373964422
CA2728818
704 R>H No ClinGen
ESP
ExAC
gnomAD
CA2728817
rs373964422
704 R>L No ClinGen
ESP
ExAC
gnomAD
rs780568215
CA2728819
705 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs184162739
CA2728820
705 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377256904
CA2728821
706 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2728822
rs780833304
707 G>A No ClinGen
ExAC
gnomAD
CA355381114
rs1251135456
709 L>F No ClinGen
gnomAD
rs1470583796
CA355381120
709 L>P No ClinGen
gnomAD

No associated diseases with Q9NUQ8

7 regional properties for Q9NUQ8

Type Name Position InterPro Accession
domain ABC transporter-like, ATP-binding domain 178 - 424 IPR003439-1
domain ABC transporter-like, ATP-binding domain 492 - 707 IPR003439-2
domain AAA+ ATPase domain 202 - 401 IPR003593-1
domain AAA+ ATPase domain 517 - 683 IPR003593-2
conserved_site ABC transporter-like, conserved site 328 - 342 IPR017871-1
conserved_site ABC transporter-like, conserved site 611 - 625 IPR017871-2
domain ABC-transporter extension domain 395 - 474 IPR032781

Functions

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

1 GO annotations of cellular component

Name Definition
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

2 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cadherin binding Binding to cadherin, a type I membrane protein involved in cell adhesion.

1 GO annotations of biological process

Name Definition
defense response to virus Reactions triggered in response to the presence of a virus that act to protect the cell or organism.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P0A9U3 ybiT Probable ATP-binding protein YbiT Escherichia coli (strain K12) PR
P43672 uup ATP-binding protein Uup Escherichia coli (strain K12) PR
Q8NE71 ABCF1 ATP-binding cassette sub-family F member 1 Homo sapiens (Human) PR
Q8K268 Abcf3 ATP-binding cassette sub-family F member 3 Mus musculus (Mouse) PR
10 20 30 40 50 60
MATCAEILRS EFPEIDGQVF DYVTGVLHSG SADFESVDDL VEAVGELLQE VSGDSKDDAG
70 80 90 100 110 120
IRAVCQRMYN TLRLAEPQSQ GNSQVLLDAP IQLSKITENY DCGTKLPGLL KREQSSTVNA
130 140 150 160 170 180
KKLEKAEARL KAKQEKRSEK DTLKTSNPLV LEEASASQAG SRKESRLESS GKNKSYDVRI
190 200 210 220 230 240
ENFDVSFGDR VLLAGADVNL AWGRRYGLVG RNGLGKTTLL KMLATRSLRV PAHISLLHVE
250 260 270 280 290 300
QEVAGDDTPA LQSVLESDSV REDLLRRERE LTAQIAAGRA EGSEAAELAE IYAKLEEIEA
310 320 330 340 350 360
DKAPARASVI LAGLGFTPKM QQQPTREFSG GWRMRLALAR ALFARPDLLL LDEPTNMLDV
370 380 390 400 410 420
RAILWLENYL QTWPSTILVV SHDRNFLNAI ATDIIHLHSQ RLDGYRGDFE TFIKSKQERL
430 440 450 460 470 480
LNQQREYEAQ QQYRQHIQVF IDRFRYNANR ASQVQSKLKM LEKLPELKPV DKESEVVMKF
490 500 510 520 530 540
PDGFEKFSPP ILQLDEVDFY YDPKHVIFSR LSVSADLESR ICVVGENGAG KSTMLKLLLG
550 560 570 580 590 600
DLAPVRGIRH AHRNLKIGYF SQHHVEQLDL NVSAVELLAR KFPGRPEEEY RHQLGRYGIS
610 620 630 640 650 660
GELAMRPLAS LSGGQKSRVA FAQMTMPCPN FYILDEPTNH LDMETIEALG RALNNFRGGV
670 680 690 700
ILVSHDERFI RLVCRELWVC EGGGVTRVEG GFDQYRALLQ EQFRREGFL