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

17 structures for Q9NVU0

Entry ID Method Resolution Chain Position Source
7A6H EM 330 A M 1-708 PDB
7AE1 EM 280 A M 1-708 PDB
7AE3 EM 310 A M 1-708 PDB
7AEA EM 340 A M 1-708 PDB
7AST EM 400 A K 1-708 PDB
7ASU X-ray 223 A A 1-708 PDB
7ASV X-ray 155 A A/B 1-708 PDB
7D58 EM 290 A M 1-708 PDB
7D59 EM 310 A M 1-708 PDB
7DN3 EM 350 A M 1-708 PDB
7DU2 EM 335 A M 1-708 PDB
7FJI EM 360 A M 1-708 PDB
7FJJ EM 360 A M 1-708 PDB
8ITY EM 390 A M 1-708 PDB
8IUE EM 410 A M 1-708 PDB
8IUH EM 340 A M 1-708 PDB
AF-Q9NVU0-F1 Predicted AlphaFoldDB

592 variants for Q9NVU0

Variant ID(s) Position Change Description Diseaes Association Provenance
CA395094076
rs1482582189
2 A>D No ClinGen
gnomAD
rs1452546462
CA395094132
4 E>D No TOPMed
ClinGen
rs375024210
CA7956445
6 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395094286
rs1598233456
9 V>G No Ensembl
ClinGen
CA395094272
rs1257015292
9 V>I No ClinGen
gnomAD
rs1256165050
CA395094351
12 E>K No ClinGen
TOPMed
CA279454796
rs775635945
13 I>L No Ensembl
ClinGen
CA395095119
rs867943604
13 I>M No ClinGen
TOPMed
rs752717152
CA7956480
14 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs767608665
CA7956479
14 D>G No ClinGen
ExAC
gnomAD
CA279454805
rs927369976
14 D>N No TOPMed
ClinGen
CA279454810
rs1057436343
15 V>M No ClinGen
Ensembl
CA7956481
rs756333804
16 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs777971329
CA7956482
18 A>S No ExAC
gnomAD
ClinGen
CA395095146
rs1350484131
18 A>V No TOPMed
ClinGen
CA7956483
rs754217445
19 K>R No ClinGen
ExAC
gnomAD
CA279454823
rs762076428
20 S>N No ClinGen
gnomAD
rs990064582
CA279454830
21 L>P No TOPMed
ClinGen
CA7956485
rs779326078
22 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1598237736
CA395095176
23 E>G No ClinGen
Ensembl
rs1161320179
CA395095198
26 Y>C No ClinGen
gnomAD
rs890880013
CA279454861
27 L>V No ClinGen
TOPMed
rs763126619
CA279454876
29 Q>H No Ensembl
ClinGen
CA7956522
rs371107234
33 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
gnomAD
ClinGen
NCI-TCGA
rs1197228508
CA395095384
33 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs1478668526
CA395095402
35 A>T No ClinGen
gnomAD
rs1409926936
CA395095423
36 S>L No gnomAD
ClinGen
CA7956524
rs767041060
36 S>P No ClinGen
ExAC
gnomAD
CA395095470
rs1387428173
39 Y>C No ClinGen
gnomAD
CA7956528
rs200525630
40 D>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7956529
rs200525630
40 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 41 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395095542
rs1406747422
43 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
CA395095553
rs1219044860
44 H>Y No TOPMed
ClinGen
rs778642427
CA7956533
45 L>F No ClinGen
ExAC
gnomAD
rs2347
VAR_024623
CA7956534
46 S>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs200294154
CA7956535
46 S>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs2347
CA279457249
46 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7956537
rs761791108
52 K>E No ExAC
gnomAD
ClinGen
rs200324185
CA279457270
53 Q>K No TOPMed
gnomAD
ClinGen
rs748308867
CA7956555
56 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA279457790
rs748308867
56 V>L No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 57 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395095864
rs1567312051
58 L>F No ClinGen
Ensembl
CA395095893
rs1567312063
59 E>D No ClinGen
Ensembl
rs1323570972
CA395095928
62 I>T No Ensembl
ClinGen
CA395095924
rs1166517993
62 I>V No ClinGen
gnomAD
rs1430389859
CA395095931
63 D>N No TOPMed
gnomAD
ClinGen
CA395095949
rs1264320378
65 L>P No ClinGen
gnomAD
CA279457804
rs368180184
67 P>R No ESP
gnomAD
ClinGen
CA395095960
rs1399522285
67 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA395095974
rs1334335667
69 Y>C No TOPMed
gnomAD
ClinGen
CA279457806
rs547486392
69 Y>D No 1000Genomes
ClinGen
CA7956557
rs370651948
71 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA395095987
rs370651948
71 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs145630346
CA7956558
COSM1197255
71 R>H lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA395095988
rs145630346
71 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA395095986
rs370651948
71 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA279457826
rs777396767
72 S>C No ClinGen
Ensembl
CA395095992
rs1295913616
72 S>N No ClinGen
gnomAD
rs771213501
CA7956559
72 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1295913616
CA395095993
72 S>T No gnomAD
ClinGen
CA7956560
rs774923031
73 K>E No ExAC
gnomAD
ClinGen
rs759806703
CA7956561
75 E>K No ClinGen
ExAC
gnomAD
rs759806703
CA395096009
75 E>Q No ClinGen
ExAC
gnomAD
rs753118768
CA7956563
78 A>V No ExAC
TOPMed
gnomAD
ClinGen
CA395096039
rs1462856653
79 L>P No TOPMed
gnomAD
ClinGen
CA7956567
rs374276149
81 V>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs374276149
CA7956566
81 V>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs369770126
CA7956569
83 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395096081
rs1465063735
86 A>T No TOPMed
gnomAD
ClinGen
CA7956573
rs754893391
87 D>G No ClinGen
ExAC
gnomAD
rs746948766
CA7956572
87 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs749376430
CA7956575
88 E>K No ClinGen
ExAC
gnomAD
CA279457889
rs1030807383
90 S>N No TOPMed
ClinGen
rs771336397
CA7956576
91 T>M No ExAC
TOPMed
gnomAD
ClinGen
rs557391772
CA7956579
92 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7956580
rs775877140
94 S>L No ClinGen
ExAC
gnomAD
CA395096410
rs1471297254
97 M>L No gnomAD
ClinGen
CA279458287
rs993189073
100 Q>H No ClinGen
TOPMed
CA7956601
rs374559993
100 Q>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 102 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 104 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1226174419
CA395096470
105 S>Y No gnomAD
ClinGen
rs1164336248
CA395096474
106 Q>E No TOPMed
ClinGen
CA395096492
rs1272054545
108 T>I No TOPMed
gnomAD
ClinGen
CA7956603
rs772727182
110 N>K No ExAC
gnomAD
ClinGen
rs1348574377
CA395096509
111 T>A No ClinGen
gnomAD
rs201393769
CA7956604
113 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA395096522
rs1181577668
113 R>H No TOPMed
ClinGen
rs1304225668
CA395096526
114 Y>H No ClinGen
gnomAD
CA7956607
rs376659970
116 A>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7956606
rs376659970
116 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs71378445
CA279458333
116 A>V No ClinGen
Ensembl
CA279458357
rs915703103
119 Y>H No ClinGen
Ensembl
CA7956608
rs141905390
120 R>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs761615159
CA7956649
123 E>K No ExAC
gnomAD
ClinGen
rs751580469
CA7956651
124 L>R No ExAC
gnomAD
ClinGen
CA7956652
rs755197115
126 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA7956653
rs767713407
128 P>S No ClinGen
ExAC
gnomAD
rs998878236
CA279461628
130 H>R No TOPMed
ClinGen
rs868801012
CA279461636
131 G>D No ClinGen
gnomAD
rs1323785679
CA395097707
134 Q>H No gnomAD
ClinGen
rs753109806
CA7956654
136 R>Q No ClinGen
ExAC
gnomAD
rs777961720
CA395097752
137 P>S No ExAC
gnomAD
ClinGen
rs777961720
CA7956656
137 P>T No ExAC
gnomAD
ClinGen
CA279461656
rs1032063400
138 S>G No TOPMed
ClinGen
TCGA novel 138 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7956657
rs749827957
141 Y>F No ExAC
gnomAD
ClinGen
rs1476702796
CA395097918
144 K>E No TOPMed
gnomAD
ClinGen
rs757650500
CA7956658
145 A>T No ExAC
gnomAD
ClinGen
CA7956659
rs778574644
147 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA395097996
rs1456784810
148 K>M No ClinGen
TOPMed
rs1399860483
CA395098034
149 H>Q No ClinGen
gnomAD
CA279461665
rs1037454352
150 R>Q No ClinGen
TOPMed
gnomAD
rs745370834
CA7956660
150 R>W No ExAC
TOPMed
gnomAD
ClinGen
CA7956662
rs775257915
154 A>V No ExAC
TOPMed
gnomAD
ClinGen
rs775054350
CA279461672
156 N>D No ClinGen
Ensembl
rs768524117
CA395098183
156 N>K No ClinGen
ExAC
gnomAD
CA395098165
rs1224832754
156 N>S No ClinGen
gnomAD
rs776239466
CA7956665
157 E>G No ExAC
ClinGen
CA279461683
rs150646233
157 E>K No ESP
TOPMed
gnomAD
ClinGen
rs760957948
CA7956690
159 G>R No ClinGen
ExAC
gnomAD
rs1330418091
CA395098381
160 D>H No ClinGen
TOPMed
gnomAD
CA395098382
rs1330418091
160 D>N No ClinGen
TOPMed
gnomAD
rs1338372524
CA395098437
162 S>L No ClinGen
gnomAD
rs1415872930
CA395098440
163 Q>K No TOPMed
ClinGen
rs764222376
CA7956691
164 D>E No ClinGen
ExAC
gnomAD
CA7956693
rs561708810
166 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1250130159
CA395098539
167 E>K No gnomAD
ClinGen
rs990848535
COSM702291
CA279462207
168 D>N lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs185265815
CA7956696
169 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs139739087
CA279462218
172 Q>R No ESP
ClinGen
rs779722712
CA7956697
174 T>M No ExAC
TOPMed
gnomAD
ClinGen
rs751138626
CA7956716
COSM288974
176 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs754415880
CA7956717
177 F>Y No ExAC
TOPMed
gnomAD
ClinGen
CA7956718
rs780713502
178 S>C No ClinGen
ExAC
gnomAD
CA395098929
rs1598255933
178 S>P No Ensembl
ClinGen
rs777551872
CA7956721
179 R>Q No ExAC
gnomAD
ClinGen
rs755707764
CA395098965
179 R>W No ExAC
TOPMed
gnomAD
ClinGen
rs569078974
CA7956723
180 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1266704043
CA395099035
182 S>L No gnomAD
ClinGen
rs747148570
COSM1221520
CA7956725
186 R>C large_intestine [Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
CA279463344
rs375432266
186 R>H No ClinGen
ESP
TOPMed
gnomAD
rs754456350
CA279463363
187 Q>R No ClinGen
Ensembl
rs1567317918
CA395099174
188 R>H No Ensembl
ClinGen
CA395099202
rs1157357479
189 R>C No TOPMed
gnomAD
ClinGen
rs776721416
CA7956727
COSM183147
189 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs776721416
CA395099207
189 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA395099222
rs1454643460
190 V>L No TOPMed
gnomAD
ClinGen
CA395099217
rs1454643460
190 V>M No TOPMed
gnomAD
ClinGen
rs200910698
CA7956728
191 Q>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA395099279
rs1347319205
192 S>F No ClinGen
TOPMed
rs1405091901
CA395099256
192 S>T No TOPMed
ClinGen
rs776848326
CA395099421
198 K>N No ExAC
TOPMed
gnomAD
ClinGen
rs773778199
CA7956730
198 K>Q No ExAC
TOPMed
gnomAD
ClinGen
rs371885512
CA7956732
199 K>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7956733
rs774752527
200 H>N No ClinGen
ExAC
gnomAD
rs1317235714
CA395099475
201 A>T No gnomAD
ClinGen
rs765476062
CA279463469
202 E>K No ClinGen
Ensembl
CA395099545
rs1289458201
204 P>A No ClinGen
gnomAD
CA395099601
rs971837138
206 V>A No TOPMed
ClinGen
CA279463485
rs971837138
206 V>D No TOPMed
ClinGen
CA7956735
rs766950443
206 V>I No ExAC
gnomAD
ClinGen
TCGA novel 207 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1270484883
CA395099654
209 H>P No ClinGen
gnomAD
rs1270484883
CA395099650
209 H>R No ClinGen
gnomAD
rs1176210178
CA395099696
211 Y>C No ClinGen
gnomAD
rs1026506180
CA279463502
211 Y>N No gnomAD
ClinGen
CA7956738
rs763725832
213 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 214 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753686071
CA7956739
214 R>K No ClinGen
ExAC
gnomAD
rs1201308693
CA395085789
215 D>Y No gnomAD
ClinGen
CA279414557
rs772279040
216 S>G No ClinGen
gnomAD
rs377091937
CA7956767
217 R>C No ESP
ExAC
TOPMed
gnomAD
ClinGen
COSM3278686
CA7956768
rs771119082
217 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA395085811
rs771119082
217 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA395085818
rs1474742496
219 E>K No ClinGen
gnomAD
rs763071220
CA279414561
220 H>R No TOPMed
ClinGen
CA7956769
rs201811894
222 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139996135
CA7956770
222 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA279414578
rs767363672
225 L>M No Ensembl
ClinGen
rs1366413994
CA395086622
227 C>F No ClinGen
TOPMed
TCGA novel 227 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1567319340
CA395086628
228 P>S No Ensembl
ClinGen
CA395086636
rs1335987533
229 G>A No ClinGen
gnomAD
CA395086634
rs1335987533
229 G>D No ClinGen
gnomAD
rs761135847
CA7956773
229 G>S No ExAC
TOPMed
gnomAD
ClinGen
rs768173463
CA7956774
230 S>* No ClinGen
ExAC
gnomAD
rs750241086
CA7956778
232 G>E No ClinGen
ExAC
gnomAD
CA7956777
rs776058208
CA7956776
232 G>R No ExAC
gnomAD
ClinGen
rs750241086
CA395086651
232 G>V No ExAC
gnomAD
ClinGen
CA7956775
rs776058208
232 G>W No ExAC
gnomAD
ClinGen
CA395086657
rs1598258412
233 V>G No ClinGen
Ensembl
CA395086654
rs1282205389
233 V>L No gnomAD
ClinGen
CA7956780
rs766458827
236 T>M No ExAC
TOPMed
gnomAD
ClinGen
rs754906748
CA7956783
239 V>I No ExAC
TOPMed
gnomAD
ClinGen
CA7956782
COSM72248
rs754906748
239 V>L ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1487801257
CA395086710
241 S>L No ClinGen
TOPMed
rs767550393
CA7956803
245 Y>S No ExAC
gnomAD
ClinGen
TCGA novel 246 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1057269313
CA279414949
COSM1221522
247 M>I large_intestine [Cosmic] No TOPMed
gnomAD
ClinGen
cosmic curated
CA7956805
rs753916340
248 M>L No ExAC
gnomAD
ClinGen
CA395086776
rs1159024515
250 M>L No ClinGen
TOPMed
rs1334844446
CA395086789
251 P>L No gnomAD
ClinGen
CA7956806
rs757331773
251 P>S No ClinGen
ExAC
gnomAD
CA395086785
rs757331773
251 P>T No ClinGen
ExAC
gnomAD
CA279414955
rs891555506
252 P>S No Ensembl
ClinGen
TCGA novel 253 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7956808
rs778822737
255 E>K No ExAC
gnomAD
ClinGen
CA7956809
rs750684693
256 E>K No ExAC
TOPMed
gnomAD
ClinGen
rs758553651
CA7956810
257 E>G No ExAC
gnomAD
ClinGen
rs1357079132
CA395086837
258 K>R No gnomAD
ClinGen
CA395086858
rs758689506
259 D>E No ClinGen
ExAC
gnomAD
CA395086856
rs1598259267
259 D>G No ClinGen
Ensembl
CA279415029
rs771589432
262 V>L No ExAC
TOPMed
gnomAD
ClinGen
CA7956828
rs771589432
262 V>M No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 263 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA279415040
rs202242656
267 V>I No ClinGen
1000Genomes
gnomAD
CA395086974
rs1376235154
268 L>P No ClinGen
TOPMed
gnomAD
rs375530322
CA7956832
269 S>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA279415041
rs552361788
269 S>P No 1000Genomes
ClinGen
CA7956834
rs777407366
272 Q>H No ExAC
gnomAD
ClinGen
CA395087029
rs1426803084
272 Q>P No gnomAD
ClinGen
rs748792802
CA7956835
274 R>C No ExAC
TOPMed
gnomAD
ClinGen
CA395087052
rs1403521906
274 R>H No TOPMed
gnomAD
ClinGen
CA395087054
rs1403521906
274 R>L No ClinGen
TOPMed
gnomAD
CA395087061
rs1398378939
275 T>A No ClinGen
gnomAD
COSM434898
rs143440180
CA7956836
275 T>M breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA395087073
rs1219352475
276 L>V No TOPMed
gnomAD
ClinGen
CA279415059
rs201302231
277 P>T No ClinGen
1000Genomes
CA7956839
rs772010876
279 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs371071744
CA7956842
280 D>N Variant assessed as Somatic; 0.0003326 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773402964
CA7956843
281 Q>H No ClinGen
ExAC
gnomAD
rs766629925
CA7956845
286 M>V No ClinGen
ExAC
gnomAD
CA279415084
rs1016274846
289 V>L No TOPMed
gnomAD
ClinGen
rs1306098947
CA395087828
290 K>R No gnomAD
ClinGen
CA7956869
CA395087853
rs759821645
292 M>I No ClinGen
ExAC
gnomAD
CA395087855
rs1242151886
293 P>T No ClinGen
gnomAD
CA7956871
rs753154066
296 N>S No ExAC
gnomAD
ClinGen
rs966611333
CA279415920
298 M>V No Ensembl
ClinGen
COSM471490
CA7956872
rs760915656
299 S>N kidney [Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
CA7956873
rs764477421
299 S>R No ExAC
gnomAD
ClinGen
CA395087963
rs1362526686
301 L>Q No ClinGen
TOPMed
CA7956874
rs754416299
302 G>D No ExAC
TOPMed
gnomAD
ClinGen
rs749377196
CA279415937
303 P>R No Ensembl
ClinGen
CA7956875
rs200549196
303 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758131420
CA395088004
305 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA7956877
rs749953687
305 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA395088008
rs779553669
306 D>H No ExAC
TOPMed
gnomAD
ClinGen
CA7956879
rs779553669
306 D>N No ExAC
TOPMed
gnomAD
ClinGen
rs1567321895
CA395088025
307 S>C No Ensembl
ClinGen
rs9934667
CA279415948
308 V>M No ClinGen
TOPMed
gnomAD
rs746863841
CA7956880
310 V>L No ClinGen
ExAC
gnomAD
CA395088053
rs58061211
311 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA395088064
rs1382000181
312 R>Q No ClinGen
gnomAD
CA7956882
rs780918282
312 R>W No ExAC
TOPMed
gnomAD
ClinGen
rs1356083923
CA395088179
322 Q>H No TOPMed
ClinGen
CA279415968
rs754996737
325 W>* No ClinGen
Ensembl
CA7956886
rs759510680
328 K>R No ExAC
TOPMed
gnomAD
ClinGen
rs1478958852
CA395088626
330 D>G No ClinGen
gnomAD
rs756092458
CA7956908
335 K>Q No ClinGen
ExAC
gnomAD
rs150960440
CA7956910
336 D>E No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs777655970
CA7956909
336 D>G No ClinGen
ExAC
gnomAD
COSM3936970
CA7956911
rs772064779
337 S>L Variant assessed as Somatic; 4.676e-05 impact. oesophagus [NCI-TCGA, Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs372099828
CA7956913
338 S>C No ClinGen
ESP
ExAC
gnomAD
TCGA novel 338 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 340 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7956914
rs140752873
340 P>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7956918
rs150257924
343 G>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 343 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7956917
rs150257924
343 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765822385
COSM968605
CA7956920
344 V>M endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1215970911
CA395088825
345 P>S No ClinGen
gnomAD
rs1386685594
CA395088838
347 E>Q No ClinGen
TOPMed
rs1418586052
CA395088849
348 V>A No ClinGen
TOPMed
CA7956921
rs556363906
348 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs767132871
CA7956923
350 C>Y No ExAC
gnomAD
ClinGen
CA395088912
rs1478215202
352 G>S No ClinGen
gnomAD
rs370478447
CA7956926
353 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7956928
rs372913863
356 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1598269535
CA395089796
357 M>I No ClinGen
Ensembl
CA395089780
rs1283737209
357 M>L No TOPMed
gnomAD
ClinGen
rs1283737209
CA395089783
357 M>V No TOPMed
gnomAD
ClinGen
CA395089841
rs1357143785
360 F>L No ClinGen
TOPMed
gnomAD
CA279419477
rs113629353
360 F>L No Ensembl
ClinGen
rs749652288
CA279419498
361 T>M No ExAC
TOPMed
gnomAD
ClinGen
rs749652288
CA7956957
361 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs147928355
CA7956959
364 R>C No ESP
ExAC
gnomAD
ClinGen
rs374794189
CA7956960
364 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 365 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1598269609
CA395089935
366 V>G No Ensembl
ClinGen
CA395089948
rs1598269622
367 V>G No Ensembl
ClinGen
CA7956961
rs771581727
367 V>I No ExAC
gnomAD
ClinGen
rs771581727
CA395089944
367 V>L No ExAC
gnomAD
ClinGen
rs1280116782
CA395089955
368 R>G No TOPMed
ClinGen
CA395090009
rs1598269642
371 V>G No ClinGen
Ensembl
CA7956962
rs774911272
372 A>V No ClinGen
ExAC
gnomAD
rs1339988559
CA395090039
373 T>I No ClinGen
TOPMed
COSM968606
rs760383677
CA7956963
374 V>M endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7956982
rs768236597
377 L>F No ClinGen
ExAC
gnomAD
TCGA novel 378 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7956984
rs371691617
378 C>W No ESP
ExAC
gnomAD
ClinGen
CA7956986
rs141897679
379 A>P No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA279419709
rs141897679
379 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141897679
CA7956985
379 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395090123
rs1598269940
379 A>V No Ensembl
ClinGen
CA395090130
rs1256493202
380 E>K No gnomAD
ClinGen
CA7956990
rs756248773
384 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA7956991
rs764031791
389 M>V No ClinGen
ExAC
gnomAD
TCGA novel 390 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395090311
rs1264868448
391 V>A No ClinGen
gnomAD
rs147107880
CA7956993
391 V>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs779398671
CA7956994
395 N>S No ExAC
gnomAD
ClinGen
rs746214271
CA7956995
396 K>R No ExAC
gnomAD
ClinGen
rs758949078
CA7956996
397 G>R No ExAC
gnomAD
ClinGen
CA7956997
rs758949078
397 G>S No ClinGen
ExAC
gnomAD
rs768237860
CA7956999
401 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs1567327000
CA395090449
403 P>L No Ensembl
ClinGen
rs867039838
CA279419818
404 Y>H No TOPMed
ClinGen
rs751557526
CA7957001
406 G>A No ExAC
TOPMed
gnomAD
ClinGen
rs751557526
CA279419828
406 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
TCGA novel 407 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA279419835
rs149566181
410 K>R No ClinGen
ESP
TOPMed
gnomAD
CA395090544
rs1567327037
413 P>L No Ensembl
ClinGen
rs1598270111
CA395090561
416 V>F No Ensembl
ClinGen
CA395090575
rs1387340923
418 R>Q No Ensembl
ClinGen
rs762820377
CA7957004
421 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs375183154
CA395090603
422 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143215940
CA7957006
424 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7957007
rs759332570
424 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA7957032
rs750669573
432 K>N No ClinGen
ExAC
gnomAD
TCGA novel 432 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763108871
CA395090688
433 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs763108871
CA7957033
433 V>D No ExAC
TOPMed
gnomAD
ClinGen
rs772687783
CA279420362
433 V>I No Ensembl
ClinGen
rs773451208
CA279420411
434 Y>C No Ensembl
ClinGen
CA279420414
rs915881605
435 N>S No TOPMed
ClinGen
rs1567327601
CA395090726
439 E>K No Ensembl
ClinGen
CA7957036
rs755567582
440 T>A No ExAC
gnomAD
ClinGen
CA279420433
COSM1178741
rs1046200207
441 M>I prostate [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1463849040
CA395090742
441 M>T No TOPMed
gnomAD
ClinGen
rs781531432
CA7957037
442 P>S No ClinGen
ExAC
gnomAD
rs902375642
CA279420445
443 K>R No ClinGen
gnomAD
CA7957039
rs760801732
445 P>L No ExAC
TOPMed
gnomAD
ClinGen
CA395090770
rs760801732
445 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1314404520
CA395090774
446 D>A No gnomAD
ClinGen
rs1208552821
CA395090779
447 A>T No ClinGen
TOPMed
rs770702495
CA7957042
449 S>* No ExAC
gnomAD
ClinGen
CA395090794
rs1598271082
449 S>P No Ensembl
ClinGen
CA395090827
rs1476254509
451 P>L No gnomAD
ClinGen
rs1567328180
CA395090829
452 A>T No Ensembl
ClinGen
CA7957062
rs202036790
453 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 454 L>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395090862
rs1433631114
456 C>R No ClinGen
gnomAD
rs1414580627
CA395090882
457 G>E No TOPMed
ClinGen
rs1175450714
CA395090876
457 G>R No ClinGen
gnomAD
rs1598271905
CA395090891
458 D>A No Ensembl
ClinGen
rs1484760171
CA395090918
460 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs757015119
CA7957063
460 R>W No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 463 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758153321
CA7957066
465 K>E No ClinGen
ExAC
gnomAD
CA7957068
rs746957779
466 T>I No ClinGen
ExAC
gnomAD
rs1026989135
CA279420877
467 K>T No TOPMed
ClinGen
CA395091001
rs1367354301
468 A>T No gnomAD
ClinGen
CA395091047
rs1351555402
471 N>K No ClinGen
gnomAD
CA279420903
rs915104697
471 N>Y No ClinGen
Ensembl
rs773340044
CA7957070
472 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs749348251
CA7957071
COSM168509
473 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7957072
rs771185200
473 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7957075
rs749940428
475 L>P No ClinGen
ExAC
gnomAD
rs749940428
CA395091088
475 L>R No ExAC
gnomAD
ClinGen
CA7957076
rs767775925
476 E>G No ExAC
TOPMed
gnomAD
ClinGen
CA395091099
rs775917917
477 R>G No ClinGen
ExAC
gnomAD
CA395091101
rs1158784306
477 R>P No ClinGen
gnomAD
rs1158784306
CA395091100
477 R>Q No gnomAD
ClinGen
CA7957077
rs775917917
477 R>W No ClinGen
ExAC
gnomAD
rs889756713
CA279420953
478 E>D No Ensembl
ClinGen
CA279420957
rs866473226
479 L>R No Ensembl
ClinGen
rs764672973
CA7957079
481 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1403176455
CA395091138
481 R>W No gnomAD
ClinGen
rs377295700
CA7957081
482 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs753434811
CA7957080
482 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs369986679
CA279421002
483 K>E No ClinGen
TOPMed
gnomAD
rs369986679
CA279420999
483 K>Q No ClinGen
TOPMed
gnomAD
rs1474265127
CA395091172
484 E>V No ClinGen
TOPMed
CA7957083
rs750060291
485 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs372825350
CA7957085
487 R>Q No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs755589505
CA7957084
487 R>W No ExAC
gnomAD
ClinGen
rs754958246
CA7957087
488 V>L No ClinGen
ExAC
gnomAD
rs754958246
CA395091207
488 V>M No ClinGen
ExAC
gnomAD
CA7957089
COSM3690849
rs748039763
490 A>V large_intestine [Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
CA395091258
rs1414127620
492 P>L No ClinGen
gnomAD
CA395091253
rs772324916
492 P>S No ExAC
TOPMed
gnomAD
ClinGen
CA7957093
rs772324916
492 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA279421060
rs981757134
493 P>L No ClinGen
TOPMed
gnomAD
rs764509661
CA7957096
493 P>S No ClinGen
ExAC
gnomAD
rs911079460
CA279421072
494 G>A No TOPMed
ClinGen
CA7957100
rs764660130
494 G>R No ExAC
TOPMed
gnomAD
ClinGen
rs764660130
CA7957099
494 G>S No ClinGen
ExAC
TOPMed
gnomAD
COSM417109
CA7957104
rs754799887
496 R>Q urinary_tract Variant assessed as Somatic; 4.993e-05 impact. [Cosmic, NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs751395979
CA7957103
496 R>W No ExAC
gnomAD
ClinGen
rs780918240
CA7957105
497 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs371078507
CA279421096
498 K>E No ESP
TOPMed
gnomAD
ClinGen
rs1229645366
CA395091367
502 V>A No ClinGen
TOPMed
rs756072532
CA7957110
502 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs756072532
CA7957109
502 V>M No ExAC
gnomAD
ClinGen
CA7957113
rs745937923
503 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1440169851
CA395091387
504 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs772220112
CA7957114
506 G>S No ClinGen
ExAC
gnomAD
rs1014487503
CA279421169
507 E>K No TOPMed
gnomAD
ClinGen
rs747177864
CA7957118
507 E>V No ClinGen
ExAC
gnomAD
CA395091440
rs1465458774
508 E>A No ClinGen
gnomAD
rs762296208
CA7957121
509 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1342489786
CA395091455
509 D>G No ClinGen
gnomAD
rs141715155
CA7957120
509 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA395091467
rs1399318708
510 E>* No ClinGen
TOPMed
gnomAD
rs1399318708
CA395091463
510 E>K No TOPMed
gnomAD
ClinGen
CA395091465
rs1399318708
510 E>Q No ClinGen
TOPMed
gnomAD
CA395091485
rs751236431
511 E>D No ExAC
gnomAD
ClinGen
CA7957125
rs762493496
511 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs193242301
CA279421197
511 E>Q No 1000Genomes
ClinGen
rs762493496
CA7957124
511 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs1416794664
CA395091489
512 Q>* No gnomAD
ClinGen
rs767365470
CA7957128
513 E>D No ExAC
TOPMed
gnomAD
ClinGen
CA7957127
rs759132942
513 E>V No ExAC
gnomAD
ClinGen
rs1227940874
CA395091501
514 A>T No gnomAD
ClinGen
rs1252985120
CA395091506
514 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7957129
rs752474199
515 E>K No ExAC
gnomAD
ClinGen
CA7957130
rs536043041
516 E>A No 1000Genomes
ExAC
gnomAD
ClinGen
rs753674369
CA7957132
CA395091527
517 E>D No ExAC
gnomAD
ClinGen
CA395091523
rs1486378205
517 E>Q No gnomAD
ClinGen
CA395091532
rs1394493342
518 P>R No TOPMed
ClinGen
rs897176305
CA279421272
519 M>I No TOPMed
gnomAD
ClinGen
CA7957133
rs199833918
519 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395091534
rs1428265755
519 M>V No gnomAD
ClinGen
rs780221573
CA7957134
520 D>G No ExAC
TOPMed
gnomAD
ClinGen
CA395091561
rs1376096839
523 P>A No gnomAD
ClinGen
CA7957135
rs747241540
524 S>R No ExAC
gnomAD
ClinGen
CA395091569
rs1454147949
524 S>T No ClinGen
TOPMed
CA7957136
rs768999204
525 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA7957137
rs781730179
526 L>F No ExAC
gnomAD
ClinGen
CA395091594
rs1297544493
528 S>N No ClinGen
gnomAD
CA7957139
rs770243846
531 A>D No ClinGen
ExAC
gnomAD
CA395091615
rs770243846
531 A>G No ExAC
gnomAD
ClinGen
rs373929935
CA279421330
533 G>R No ClinGen
ESP
TOPMed
CA395091640
rs1486028811
535 P>L No ClinGen
gnomAD
CA395091637
rs1284849121
535 P>S No ClinGen
gnomAD
TCGA novel 536 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7957144
rs139179088
CA7957143
537 G>R No ClinGen
ESP
ExAC
gnomAD
CA7957146
rs368340336
538 R>Q No ESP
ExAC
gnomAD
ClinGen
rs533624898
CA7957145
538 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA395091664
rs1396253859
540 A>V No gnomAD
ClinGen
rs763744993
CA7957148
541 G>C No ClinGen
ExAC
gnomAD
rs544951596
COSM1221519
CA7957149
541 G>D large_intestine [Cosmic] No 1000Genomes
ExAC
gnomAD
ClinGen
cosmic curated
rs1029700316
CA279421391
542 T>R No ClinGen
TOPMed
gnomAD
rs61744759
CA279421393
543 D>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs61744759
CA7957150
543 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7957151
rs766635425
544 S>G No ClinGen
ExAC
gnomAD
CA395091685
rs1290874133
544 S>N No ClinGen
gnomAD
rs1388254524
CA395091690
545 F>L No gnomAD
ClinGen
rs1373174369
CA395091705
547 G>R No ClinGen
TOPMed
gnomAD
CA395091714
rs1598272863
548 H>P No Ensembl
ClinGen
CA7957154
rs781538164
549 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA395091728
rs1433834500
550 P>L No TOPMed
gnomAD
ClinGen
CA7957157
rs777943370
550 P>S No ExAC
TOPMed
gnomAD
ClinGen
CA395091731
rs1263344734
551 Q>* No ClinGen
gnomAD
rs749807864
CA7957158
551 Q>R No ClinGen
ExAC
gnomAD
CA7957159
rs771412352
552 G>C No ExAC
gnomAD
ClinGen
CA7957163
rs775226382
554 A>D No ClinGen
ExAC
gnomAD
rs375146644
CA7957162
554 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1161509350
CA395091756
555 S>N No ClinGen
TOPMed
gnomAD
CA395091764
rs1485734052
556 T>N No TOPMed
ClinGen
CA395091767
rs1228462761
557 P>T No ClinGen
gnomAD
CA395091773
rs1460715936
558 V>M No ClinGen
gnomAD
rs868635639
CA279421482
559 A>D No Ensembl
ClinGen
rs1396417428
CA395091781
559 A>S No gnomAD
ClinGen
rs868635639
CA279421488
559 A>V No Ensembl
ClinGen
rs776282819
CA7957166
560 R>P No ClinGen
ExAC
gnomAD
CA7957165
rs370224362
560 R>W No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1289043237
CA395091786
561 E>K No TOPMed
gnomAD
ClinGen
CA7957167
rs761903860
563 K>N No ClinGen
ExAC
gnomAD
CA7957168
rs545491852
564 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA395091821
CA395091820
rs1233055917
566 V>L No ClinGen
TOPMed
gnomAD
CA395091819
rs1233055917
566 V>M No TOPMed
gnomAD
ClinGen
rs1274131743
CA395091829
567 E>G No ClinGen
gnomAD
CA395091836
rs755140834
568 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA395091834
rs1348842437
568 A>P No TOPMed
ClinGen
CA7957170
rs755140834
568 A>V No ExAC
TOPMed
gnomAD
ClinGen
CA279421549
rs1056044152
570 F>L No ClinGen
TOPMed
gnomAD
CA7957171
rs767447138
570 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs1179080472
CA395091881
575 V>M No ClinGen
gnomAD
rs752978634
CA7957172
577 T>A No ClinGen
ExAC
gnomAD
TCGA novel 580 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749592536
CA7957175
580 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1463897933
CA395091933
583 R>C No gnomAD
ClinGen
CA7957176
rs757800689
583 R>H No ExAC
TOPMed
gnomAD
ClinGen
rs1355093817
CA395091939
584 L>F No ClinGen
gnomAD
CA7957177
rs779427318
586 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA7957181
rs377754724
593 P>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs377754724
CA395091997
593 P>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs777556882 595 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA7957185
rs761673211
595 G>S No ClinGen
ExAC
gnomAD
rs1217653119
CA395092016
596 H>Y No TOPMed
ClinGen
CA395092033
rs1207247345
598 L>H No gnomAD
ClinGen
CA395092035
rs1485397859
599 F>L No gnomAD
ClinGen
CA395092038
rs1182571977
599 F>S No gnomAD
ClinGen
CA395092050
rs773304266
601 G>C No ClinGen
ExAC
gnomAD
CA7957188
rs773304266
601 G>R No ClinGen
ExAC
gnomAD
rs773304266
CA279421625
601 G>S No ExAC
gnomAD
ClinGen
rs527434936
CA279421635
602 I>F No ClinGen
ExAC
gnomAD
rs1422536180
CA395092056
602 I>T No ClinGen
TOPMed
gnomAD
CA7957189
rs527434936
602 I>V No ExAC
gnomAD
ClinGen
CA395092070
rs1476706405
603 S>L No TOPMed
gnomAD
ClinGen
rs1420140642
CA395092083
604 D>E No ClinGen
gnomAD
CA395092086
rs1430168280
605 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
CA7957190
rs767640780
605 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA395092091
rs767640780
605 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1000769661
CA279421646
606 M>V No ClinGen
TOPMed
rs1429054307
CA395092117
608 Q>E No TOPMed
ClinGen
rs761005584
COSM1189213
CA7957192
610 T>M lung [Cosmic] No ExAC
ClinGen
cosmic curated
CA395092155
rs1358294337
611 V>A No gnomAD
ClinGen
rs1429052985
CA395092158
612 L>V No gnomAD
ClinGen
rs368901417
CA7957195
614 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs948337022
CA279421682
615 G>R No ClinGen
TOPMed
gnomAD
rs948337022
CA395092184
615 G>S No ClinGen
TOPMed
gnomAD
rs1162196904
CA395092269
622 P>T No ClinGen
TOPMed
rs762078477
CA395093172
623 F>I No ClinGen
ExAC
TOPMed
gnomAD
CA7957235
rs762078477
623 F>L No ExAC
TOPMed
gnomAD
ClinGen
CA7957238
rs773608191
624 P>L No ClinGen
ExAC
gnomAD
CA279423979
rs1052423646
626 Q>E No ClinGen
TOPMed
gnomAD
rs1052423646
CA395093214
626 Q>K No TOPMed
gnomAD
ClinGen
CA7957240
rs766718523
626 Q>P No ExAC
gnomAD
ClinGen
rs148649380
CA7957241
628 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395093257
rs1228006433
629 A>V No ClinGen
gnomAD
rs755450212
COSM3948377
CA7957242
631 P>A ovary [Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
CA7957243
rs767206740
631 P>L No ExAC
TOPMed
gnomAD
ClinGen
CA279423998
rs767206740
631 P>R No ExAC
TOPMed
gnomAD
ClinGen
rs755450212
CA395093273
631 P>S No ClinGen
ExAC
gnomAD
CA7957245
rs755869115
633 E>K No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 635 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA279424018
rs376028275
638 A>V No ESP
TOPMed
gnomAD
ClinGen
rs748918167
CA7957247
642 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs1323440283
CA395093423
643 G>R No TOPMed
ClinGen
TCGA novel 647 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395093490
rs1253136278
648 Q>K No TOPMed
gnomAD
ClinGen
rs769877164
CA7957275
649 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs749543511
CA7957277
650 R>* No ExAC
gnomAD
ClinGen
CA279430366
rs1018078412
650 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA395094131
rs1274307170
655 E>Q No gnomAD
ClinGen
TCGA novel 659 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 660 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868058149
CA279430393
662 R>W No ClinGen
Ensembl
rs947796262
CA279430400
664 R>C No ClinGen
TOPMed
gnomAD
CA7957282
rs374321456
664 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7957283
rs761192914
665 R>* No ExAC
gnomAD
ClinGen
rs1045218409
CA279430418
665 R>Q No Ensembl
ClinGen
rs1324733922
CA395094429
667 M>K No TOPMed
ClinGen
rs1229653303
CA395094426
667 M>L No TOPMed
ClinGen
rs1324733922
CA395094431
667 M>T No ClinGen
TOPMed
rs183932619
CA395094500
671 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7957285
rs183932619
671 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7957284
rs763763238
671 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA395094502
rs761419294
672 L>M No ClinGen
ExAC
gnomAD
rs764909521
CA7957287
673 T>I No ExAC
gnomAD
ClinGen
CA7957289
rs758213533
675 E>D No ExAC
gnomAD
ClinGen
rs1460029979
CA395094550
675 E>K No ClinGen
TOPMed
gnomAD
CA395094613
rs1476216707
679 D>E No TOPMed
ClinGen
CA7957290
rs779767153
681 S>N No ExAC
gnomAD
ClinGen
rs144564107
CA7957291
682 K>Q No 1000Genomes
ExAC
gnomAD
ClinGen
rs1353985822
CA395094647
682 K>R No ClinGen
gnomAD
rs754909996
CA7957292
683 Q>* No ExAC
ClinGen
CA7957293
rs777777289
683 Q>P No ClinGen
ExAC
gnomAD
rs1370825676
CA395094709
687 K>E No ClinGen
TOPMed
TCGA novel 688 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395094742
rs1567335393
689 L>Q No ClinGen
Ensembl
rs781155231
CA7957316
692 C>Y No ClinGen
ExAC
gnomAD
CA7957319
rs778788100
695 S>R No ExAC
gnomAD
ClinGen
CA7957318
rs757368468
695 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA7957320
rs34634941
696 Y>C No ExAC
TOPMed
gnomAD
ClinGen
CA395094975
rs34634941
696 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA279431926
rs34634941
696 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA7957321
rs758679787
698 G>D No ClinGen
ExAC
gnomAD
CA395095007
rs1366473468
699 M>L No ClinGen
gnomAD
CA279431941
rs967787753
700 W>* No TOPMed
gnomAD
ClinGen
CA7957322
rs780614164
700 W>C No ClinGen
ExAC
gnomAD
TCGA novel 704 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1388947859
CA395095107
706 V>A No ClinGen
gnomAD
CA7957324
rs768860071
707 Q>* No ClinGen
ExAC
gnomAD
CA395095230
rs753637249
707 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA395095233
rs1314930622
708 S>P No ClinGen
gnomAD
CA7957326
rs748547202
709 S>R No ExAC
gnomAD
ClinGen

No associated diseases with Q9NVU0

1 regional properties for Q9NVU0

Type Name Position InterPro Accession
domain DNA-directed RNA polymerase III subunit RPC5, C-terminal 443 - 708 IPR045576

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
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
RNA polymerase III complex RNA polymerase III, one of three nuclear DNA-directed RNA polymerases found in all eukaryotes, is a multisubunit complex; typically it produces 5S rRNA, tRNAs and some of the small nuclear RNAs. Two large subunits comprise the most conserved portion including the catalytic site and share similarity with other eukaryotic and bacterial multisubunit RNA polymerases. The remainder of the complex is composed of smaller subunits (generally ten or more), some of which are also found in RNA polymerase I and others of which are also found in RNA polymerases I and II. Although the core is competent to mediate ribonucleic acid synthesis, it requires additional factors to select the appropriate template.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

3 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.
DNA-templated transcription The synthesis of an RNA transcript from a DNA template.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MANEEDDPVV QEIDVYLAKS LAEKLYLFQY PVRPASMTYD DIPHLSAKIK PKQQKVELEM
70 80 90 100 110 120
AIDTLNPNYC RSKGEQIALN VDGACADETS TYSSKLMDKQ TFCSSQTTSN TSRYAAALYR
130 140 150 160 170 180
QGELHLTPLH GILQLRPSFS YLDKADAKHR EREAANEAGD SSQDEAEDDV KQITVRFSRP
190 200 210 220 230 240
ESEQARQRRV QSYEFLQKKH AEEPWVHLHY YGLRDSRSEH ERQYLLCPGS SGVENTELVK
250 260 270 280 290 300
SPSEYLMMLM PPSQEEEKDK PVAPSNVLSM AQLRTLPLAD QIKILMKNVK VMPFANLMSL
310 320 330 340 350 360
LGPSIDSVAV LRGIQKVAML VQGNWVVKSD ILYPKDSSSP HSGVPAEVLC RGRDFVMWKF
370 380 390 400 410 420
TQSRWVVRKE VATVTKLCAE DVKDFLEHMA VVRINKGWEF ILPYDGEFIK KHPDVVQRQH
430 440 450 460 470 480
MLWTGIQAKL EKVYNLVKET MPKKPDAQSG PAGLVCGDQR IQVAKTKAQQ NHALLERELQ
490 500 510 520 530 540
RRKEQLRVPA VPPGVRIKEE PVSEEGEEDE EQEAEEEPMD TSPSGLHSKL ANGLPLGRAA
550 560 570 580 590 600
GTDSFNGHPP QGCASTPVAR ELKAFVEATF QRQFVLTLSE LKRLFNLHLA SLPPGHTLFS
610 620 630 640 650 660
GISDRMLQDT VLAAGCKQIL VPFPPQTAAS PDEQKVFALW ESGDMSDQHR QVLLEIFSKN
670 680 690 700
YRVRRNMIQS RLTQECGEDL SKQEVDKVLK DCCVSYGGMW YLKGTVQS