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

20 structures for P29590

Entry ID Method Resolution Chain Position Source
1BOR NMR - A 49-104 PDB
2MVW NMR - A/B 120-168 PDB
2MWX NMR - A 49-104 PDB
4WJN X-ray 150 A B 547-573 PDB
4WJO X-ray 146 A B 547-573 PDB
5YUF X-ray 160 A A/B/C/D 49-99 PDB
6IMQ X-ray 206 A A/B/C/D 120-168 PDB
6UYO X-ray 164 A B/D 547-574 PDB
6UYP X-ray 142 A B 547-574 PDB
6UYQ X-ray 150 A B 547-574 PDB
6UYR X-ray 130 A B 547-574 PDB
6UYS X-ray 159 A B/D 547-574 PDB
6UYT X-ray 166 A B 547-574 PDB
6UYU X-ray 166 A B/D 547-574 PDB
6UYV X-ray 140 A B 547-574 PDB
8DJH X-ray 177 A B 546-573 PDB
8DJI X-ray 197 A B 547-574 PDB
8J25 X-ray 260 A A 183-236 PDB
8J2P X-ray 209 A A/E 183-236 PDB
AF-P29590-F1 Predicted AlphaFoldDB

775 variants for P29590

Variant ID(s) Position Change Description Diseaes Association Provenance
CA058983
rs780746013
RCV000207284
755 R>P Ductal breast carcinoma [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs925273078
CA272726353
3 P>T No ClinGen
Ensembl
CA393114886
rs1450586395
4 A>T No ClinGen
TOPMed
gnomAD
CA393114891
rs1225562023
4 A>V No ClinGen
gnomAD
rs1257467598
CA393114894
5 P>A No ClinGen
gnomAD
rs975151127
CA272726361
5 P>H No ClinGen
Ensembl
rs1482238182
CA393114917
7 R>L No ClinGen
TOPMed
gnomAD
CA7652294
rs542097036
8 S>F No ClinGen
1000Genomes
ExAC
gnomAD
CA7652295
rs542097036
8 S>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1479031859
CA393114926
9 P>A No ClinGen
TOPMed
CA393114934
rs1429883570
9 P>L No ClinGen
gnomAD
CA393114939
rs1168158486
10 R>K No ClinGen
gnomAD
CA393114947
rs1469928575
11 P>S No ClinGen
TOPMed
gnomAD
CA393114969
rs1277045101
13 Q>E No ClinGen
TOPMed
CA272726374
rs1020660622
15 P>S No ClinGen
TOPMed
CA272726376
rs886298849
16 A>T No ClinGen
Ensembl
rs751354376
CA393115010
17 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1273074911
CA393115049
20 E>D No ClinGen
TOPMed
rs1466002928
CA393115055
21 P>S No ClinGen
gnomAD
rs1380719368
CA393115080
23 M>I No ClinGen
TOPMed
gnomAD
rs1364577658
CA393115074
23 M>L No ClinGen
gnomAD
CA393115072
rs1364577658
23 M>V No ClinGen
gnomAD
CA393115089
rs1595870267
24 P>L No ClinGen
Ensembl
CA393115088
rs1274872826
24 P>S No ClinGen
TOPMed
CA272726383
rs376726233
25 P>T No ClinGen
Ensembl
rs781165510
CA7652299
26 P>H No ClinGen
ExAC
gnomAD
rs781165510
CA7652300
26 P>R No ClinGen
ExAC
gnomAD
CA393115101
rs1346221283
26 P>T No ClinGen
gnomAD
rs979739048
CA272726401
27 E>D No ClinGen
TOPMed
CA7652302
rs201524800
28 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA7652301
RCV000957320
rs28504405
28 T>P No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs749399804
CA393115125
29 P>A No ClinGen
ExAC
gnomAD
CA272726412
rs959506424
29 P>L No ClinGen
TOPMed
rs749399804
CA7652303
29 P>S No ClinGen
ExAC
gnomAD
CA393115124
rs749399804
29 P>T No ClinGen
ExAC
gnomAD
rs1369762288
CA393115131
30 S>P No ClinGen
TOPMed
rs768816135
CA7652304
31 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA393115161
rs1191059573
32 G>D No ClinGen
gnomAD
CA393115165
rs1480567758
33 R>C No ClinGen
gnomAD
CA393115177
rs1200903609
34 Q>P No ClinGen
gnomAD
CA393115178
rs1200903609
34 Q>R No ClinGen
gnomAD
CA393115208
rs1422486859
37 P>T No ClinGen
gnomAD
CA393115218
rs1595870347
38 S>R No ClinGen
Ensembl
rs1001161123
CA272726420
38 S>T No ClinGen
Ensembl
CA393115238
rs1160529595
40 S>G No ClinGen
gnomAD
rs779135665
CA7652305
41 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA7652306
rs748479176
42 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs748479176
CA393115258
42 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs761685300
CA7652316
44 R>Q No ClinGen
ExAC
gnomAD
CA393115941
rs1321882631
45 A>V No ClinGen
gnomAD
TCGA novel 47 A>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7652317
rs767279397
47 A>S No ClinGen
ExAC
gnomAD
CA7652318
rs377614337
48 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780062613
CA7652320
51 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA393116002
rs1595875004
51 E>D No ClinGen
Ensembl
CA272731054
rs951185816
53 Q>R No ClinGen
TOPMed
rs147696900
CA7652321
56 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 56 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1567115231
COSM3387038
COSM3387036
COSM3387039
CA393116132
COSM3387037
COSM3387040
62 A>V pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1359953081
CA393116138
63 E>G No ClinGen
gnomAD
rs1308225290
CA393116133
63 E>K No ClinGen
gnomAD
CA272731060
rs963684052
66 C>S No ClinGen
TOPMed
gnomAD
CA7652322
rs755088983
67 P>S No ClinGen
ExAC
gnomAD
CA393116198
rs975077458
69 L>V No ClinGen
TOPMed
gnomAD
CA393116219
rs1456793279
71 P>L No ClinGen
gnomAD
rs1446894217
CA393116290
78 S>L No ClinGen
TOPMed
gnomAD
CA393116296
rs748429878
79 G>A No ClinGen
ExAC
gnomAD
rs748429878
CA7652324
79 G>E No ClinGen
ExAC
gnomAD
rs28412621
CA272731080
79 G>R No ClinGen
Ensembl
rs772423497
CA7652325
80 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA393116301
rs772423497
80 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA7652327
rs752972084
84 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs771298279
CA7652328
84 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1450534241
CA393116363
86 M>L No ClinGen
gnomAD
rs543332226
CA272731092
87 Q>K No ClinGen
1000Genomes
CA272731096
rs955683290
89 P>S No ClinGen
TOPMed
CA272731102
rs977975731
91 C>S No ClinGen
TOPMed
rs762523424
CA7652330
92 Q>E No ClinGen
ExAC
gnomAD
rs531642849
CA7652332
93 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs531642849
CA7652331
93 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs531642849
CA272731122
93 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1355146149
CA393116460
94 P>L No ClinGen
gnomAD
rs761487093
CA7652333
94 P>S No ClinGen
ExAC
gnomAD
CA393116471
rs767209117
95 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs767209117
CA7652334
95 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA393116473
rs1274459324
COSM35573
96 P>T central_nervous_system [Cosmic] No ClinGen
cosmic curated
gnomAD
CA272731130
rs936181106
98 G>A No ClinGen
TOPMed
rs1173712908
CA393116493
98 G>S No ClinGen
TOPMed
CA393116498
rs1214444976
99 A>T No ClinGen
Ensembl
CA7652335
rs772834238
101 T>P No ClinGen
ExAC
gnomAD
CA393116535
rs570405596
COSM555995
COSM555997
COSM555996
103 A>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs570405596
CA272731131
103 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7652336
rs760548118
105 D>A No ClinGen
ExAC
gnomAD
rs372639541
CA272731135
106 N>D No ClinGen
ESP
gnomAD
rs756707115
CA272731139
107 V>A No ClinGen
Ensembl
CA393116573
rs1251227417
107 V>I No ClinGen
TOPMed
rs1268652956
CA393116610
110 E>K No ClinGen
gnomAD
CA393116622
rs1340042373
111 S>N No ClinGen
gnomAD
rs1237299020
CA393116645
113 Q>R No ClinGen
gnomAD
CA393116653
rs1475848935
114 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs766194468
CA7652337
115 R>C No ClinGen
ExAC
gnomAD
TCGA novel 118 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393116706
rs1204490067
119 Y>* No ClinGen
TOPMed
CA7652340
rs765368853
119 Y>H No ClinGen
ExAC
gnomAD
CA393116696
rs765368853
119 Y>N No ClinGen
ExAC
gnomAD
rs141544943
CA7652341
COSM1374477
COSM1374478
COSM1374476
120 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
CA393116724
rs1339696841
121 Q>H No ClinGen
gnomAD
rs758491320
CA7652342
122 I>T No ClinGen
ExAC
gnomAD
rs1430981462
CA393116730
122 I>V No ClinGen
gnomAD
CA393116752
rs1279833875
124 D>G No ClinGen
TOPMed
gnomAD
CA7652343
rs77069486
125 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1254559908
CA393116761
125 A>S No ClinGen
TOPMed
CA393116765
rs77069486
125 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA272731157
rs764681333
127 A>T No ClinGen
Ensembl
rs916000806
CA272731165
128 V>A No ClinGen
TOPMed
CA393116797
rs1278780676
129 C>G No ClinGen
gnomAD
rs948690909
CA272731173
130 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA393116808
rs1595875279
130 T>P No ClinGen
Ensembl
CA393116851
rs1567115705
134 E>K No ClinGen
Ensembl
CA7652349
rs372931853
135 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 136 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1170797771
CA393116915
139 W>C No ClinGen
TOPMed
gnomAD
CA7652351
rs771584396
140 C>W No ClinGen
ExAC
gnomAD
rs1567115731
COSM416829
COSM416827
COSM416828
CA393116943
142 E>Q Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1437769332
CA393116993
146 L>H No ClinGen
TOPMed
rs1184287467
CA393116996
147 L>F No ClinGen
TOPMed
rs1212946978
CA393117004
148 C>R No ClinGen
gnomAD
CA393117023
rs1262054222
149 A>V No ClinGen
gnomAD
rs1283335549
CA393117036
150 K>N No ClinGen
TOPMed
gnomAD
rs1399049666
CA393117031
150 K>R No ClinGen
gnomAD
CA393117069
rs1332371182
153 E>G No ClinGen
gnomAD
CA272731192
rs943898401
154 A>T No ClinGen
Ensembl
CA272731195
rs370861713
158 F>L No ClinGen
ESP
gnomAD
CA393117193
rs1488061660
163 A>V No ClinGen
gnomAD
CA393117200
rs1223553102
164 R>L No ClinGen
gnomAD
rs1223553102
CA393117197
164 R>Q No ClinGen
gnomAD
rs759402979
CA7652356
165 P>R No ClinGen
ExAC
gnomAD
CA272731199
rs1047320957
167 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1196661368
CA393117220
167 A>S No ClinGen
gnomAD
CA7652357
rs565000110
168 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA393117227
rs1376941327
168 E>Q No ClinGen
gnomAD
CA272731201
rs995136133
170 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7652358
rs200708179
COSM1736534
COSM1736535
COSM1736536
170 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758540569
CA7652359
171 N>H No ClinGen
ExAC
gnomAD
rs764195821
CA7652360
171 N>I No ClinGen
ExAC
gnomAD
TCGA novel 172 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393117293
rs781633419
175 R>H No ClinGen
ExAC
gnomAD
CA7652364
rs781633419
175 R>L No ClinGen
ExAC
gnomAD
CA7652363
rs781633419
175 R>P No ClinGen
ExAC
gnomAD
rs368684793
CA7652365
177 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393117317
rs1353498874
178 L>V No ClinGen
gnomAD
CA393117337
rs1267526518
180 G>S No ClinGen
gnomAD
COSM335029
rs771660433
COSM335030
CA7652369
COSM335028
182 R>C lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA7652368
rs771660433
182 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA393117362
rs1251375241
182 R>H No ClinGen
gnomAD
CA393117374
rs1458135124
183 K>N No ClinGen
gnomAD
CA272731221
rs200143816
185 N>K No ClinGen
Ensembl
CA393117393
rs1296376316
185 N>S No ClinGen
gnomAD
rs996506100
CA272731223
186 N>I No ClinGen
TOPMed
gnomAD
rs373742710
CA7652371
188 F>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138345086
CA7652372
190 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759349668
CA393117453
191 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA393117456
rs1456081859
191 N>K No ClinGen
gnomAD
rs759349668
CA7652373
191 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA393117465
rs1162081356
192 P>L No ClinGen
gnomAD
rs551261745
CA7652374
193 N>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7652375
rs775451143
193 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1376622935
CA393117492
195 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs35291318
CA7652377
196 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA393117511
rs1244391079
197 P>H No ClinGen
gnomAD
rs1320170444
CA393117517
198 T>A No ClinGen
TOPMed
gnomAD
CA393117515
rs1320170444
198 T>P No ClinGen
TOPMed
gnomAD
CA393121735
rs1270889485
204 C>R No ClinGen
TOPMed
CA7652395
rs768489639
205 R>Q No ClinGen
ExAC
gnomAD
rs774435967
CA7652396
207 C>R No ClinGen
ExAC
gnomAD
rs1263370609
CA393121765
207 C>Y No ClinGen
gnomAD
CA272740575
rs897824788
208 S>C No ClinGen
TOPMed
CA393121775
rs1595901342
208 S>P No ClinGen
Ensembl
CA393121802
rs1262797163
210 P>L No ClinGen
TOPMed
rs1422344468
CA393121799
210 P>S No ClinGen
gnomAD
CA393121808
rs1178944366
211 L>Q No ClinGen
gnomAD
rs750722602
CA7652399
214 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1289836458
CA393121883
216 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA393121927
rs1398414369
218 L>P No ClinGen
gnomAD
CA393121963
rs1297620109
220 S>G No ClinGen
gnomAD
rs1297620109
CA393121954
220 S>R No ClinGen
gnomAD
rs1595901403
CA393121968
220 S>T No ClinGen
Ensembl
CA393122034
rs1303403905
223 S>N No ClinGen
gnomAD
CA393122029
rs1442033915
223 S>R No ClinGen
TOPMed
CA272740616
rs17849258
224 E>D No ClinGen
ExAC
gnomAD
CA393122126
rs1567129448
228 D>N No ClinGen
Ensembl
rs779310039
CA7652404
229 I>M No ClinGen
ExAC
gnomAD
TCGA novel 229 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393122138
rs1232184244
229 I>V No ClinGen
gnomAD
rs751040865
CA7652405
230 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1214061989
CA393122163
231 A>T No ClinGen
gnomAD
rs926123422
CA272740626
231 A>V No ClinGen
Ensembl
rs1261820613
CA393122253
236 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs780804100
CA7652407
237 Q>H No ClinGen
ExAC
gnomAD
CA7652408
rs745581079
239 E>A No ClinGen
ExAC
gnomAD
CA393122314
rs1433142701
240 L>M No ClinGen
TOPMed
gnomAD
rs779837719
CA7652410
241 D>Y No ClinGen
ExAC
gnomAD
rs1297879562
CA393122349
242 A>S No ClinGen
gnomAD
CA393122383
rs1198521064
243 M>I No ClinGen
gnomAD
CA393122368
rs1454143397
243 M>V No ClinGen
TOPMed
rs548755096
CA7652412
244 T>K No ClinGen
1000Genomes
ExAC
rs548755096
CA272740637
244 T>M No ClinGen
1000Genomes
ExAC
rs1175324232
CA393122394
245 Q>K No ClinGen
TOPMed
CA7652414
rs748216366
245 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1409973888
CA393122410
246 A>T No ClinGen
TOPMed
TCGA novel 248 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393122439
rs1158932968
248 Q>K No ClinGen
TOPMed
CA393122444
rs1365346638
248 Q>R No ClinGen
gnomAD
CA7652418
rs766524275
251 D>A No ClinGen
ExAC
gnomAD
rs267604312
CA272740659
251 D>E No ClinGen
TOPMed
CA393122507
rs766524275
251 D>G No ClinGen
ExAC
gnomAD
rs769861444
CA272740658
251 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA7652417
rs769861444
251 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs936232769
CA272740663
252 S>G No ClinGen
gnomAD
rs1223070898
CA393122524
252 S>N No ClinGen
gnomAD
CA272740666
rs1039943861
256 A>E No ClinGen
Ensembl
rs765744379
CA7652422
257 V>A No ClinGen
ExAC
rs1438297871
CA393122646
259 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA393122655
rs1414728269
260 Q>* No ClinGen
gnomAD
rs1156972442
CA393122676
261 M>T No ClinGen
TOPMed
gnomAD
rs1318964350
CA393122696
262 H>Q No ClinGen
TOPMed
rs921249769
CA272740671
262 H>Y No ClinGen
gnomAD
TCGA novel 264 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749942852
CA7652426
265 V>A No ClinGen
ExAC
gnomAD
rs755711851
CA7652427
266 G>R No ClinGen
ExAC
gnomAD
TCGA novel 266 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7652428
rs779600459
267 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1332038475
CA393122765
268 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs369316804
CA7652430
271 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1020491808
CA272740693
272 R>H No ClinGen
TOPMed
gnomAD
rs1020491808
CA393122819
272 R>L No ClinGen
TOPMed
gnomAD
CA272740696
rs887232755
273 A>G No ClinGen
Ensembl
CA393122844
rs1320649709
274 E>D No ClinGen
gnomAD
CA7652433
rs772139210
274 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA393122853
rs1199813720
275 T>I No ClinGen
gnomAD
CA393122855
rs1346612667
276 E>K No ClinGen
TOPMed
CA7652434
rs773369332
280 R>L No ClinGen
ExAC
gnomAD
rs1238444195
CA393122952
282 R>C No ClinGen
TOPMed
gnomAD
CA393122958
rs1473885809
282 R>H No ClinGen
TOPMed
gnomAD
rs1180398219
CA393122965
283 V>M No ClinGen
gnomAD
rs771145349
CA7652436
284 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA393122991
rs771145349
284 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1180210722
CA393122994
285 Q>* No ClinGen
TOPMed
rs1180210722
CA393122993
285 Q>E No ClinGen
TOPMed
CA7652437
rs776759306
285 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1478151792
CA393122996
285 Q>R No ClinGen
gnomAD
rs759926492
CA7652439
286 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs759926492
CA7652438
286 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA7652440
rs775974503
287 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1294566437
CA393123037
289 H>D No ClinGen
TOPMed
CA393123044
rs1327908477
289 H>R No ClinGen
gnomAD
CA7652441
rs763387415
290 V>G No ClinGen
ExAC
gnomAD
rs1247431420
CA393123079
291 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs764605006
CA7652442
292 A>T No ClinGen
ExAC
gnomAD
rs749893395
CA7652443
293 Q>L No ClinGen
ExAC
gnomAD
rs1226139282
CA393123141
295 R>G No ClinGen
TOPMed
rs755656820
CA7652444
296 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs868222335
CA272740738
296 E>K No ClinGen
TOPMed
rs868222335
CA272740737
296 E>Q No ClinGen
TOPMed
CA393123200
rs1198615199
299 E>V No ClinGen
gnomAD
rs1279768942
CA393123220
301 V>M No ClinGen
gnomAD
CA393123243
rs1444561442
302 D>V No ClinGen
gnomAD
rs1414305085
CA393123250
303 A>T No ClinGen
Ensembl
rs754797325
CA7652447
303 A>V No ClinGen
ExAC
gnomAD
CA7652448
rs778503914
304 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA7652449
rs778503914
304 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7652450
rs538982599
305 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
COSM1724222
COSM1724221
COSM1724220
CA393123295
rs1195888860
306 Q>* NS [Cosmic] No ClinGen
cosmic curated
gnomAD
rs140050477
CA7652451
307 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7652452
rs747055654
308 D>N No ClinGen
ExAC
gnomAD
CA272740767
rs1033626602
310 E>D No ClinGen
Ensembl
CA7652454
rs146344435
310 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs377549937
CA272740766
310 E>V No ClinGen
ESP
TOPMed
gnomAD
rs889133403
CA272740768
311 E>A No ClinGen
TOPMed
CA7652455
rs746145846
313 A>P No ClinGen
ExAC
gnomAD
rs746145846
CA393123411
313 A>S No ClinGen
ExAC
gnomAD
CA7652456
rs139917470
315 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393123486
rs1299464689
317 G>R No ClinGen
gnomAD
rs1299464689
CA393123485
317 G>S No ClinGen
gnomAD
rs1227334631
CA393123510
318 R>H No ClinGen
gnomAD
rs1337848870
CA393123507
318 R>S No ClinGen
gnomAD
TCGA novel 319 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393123524
rs1347767687
319 L>R No ClinGen
gnomAD
CA7652457
rs775778127
319 L>V No ClinGen
ExAC
gnomAD
CA272740773
rs774884695
320 D>G No ClinGen
ExAC
gnomAD
rs774884695
CA7652460
320 D>V No ClinGen
ExAC
gnomAD
rs769118386
CA7652459
320 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA393123562
rs1219129562
321 A>V No ClinGen
gnomAD
TCGA novel 322 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765869727
CA7652462
325 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA272740776
rs966391049
326 I>F No ClinGen
Ensembl
rs979167489
CA272740777
327 R>C No ClinGen
gnomAD
rs1218716032
CA393123677
327 R>L No ClinGen
TOPMed
CA272740781
rs957562720
329 G>S No ClinGen
Ensembl
CA7652465
rs765004499
331 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs752501211
CA7652466
331 A>V No ClinGen
ExAC
gnomAD
CA393123868
rs1381104278
335 R>S No ClinGen
gnomAD
CA272740792
rs921570606
337 K>R No ClinGen
gnomAD
rs371084483
CA7652468
338 C>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7652470
rs199516006
345 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745978140
CA7652472
347 D>G No ClinGen
ExAC
gnomAD
CA393124094
rs1463575722
347 D>N No ClinGen
TOPMed
rs769864191
CA393124125
348 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA393124137
rs1210460728
348 M>T No ClinGen
gnomAD
rs769864191
CA7652473
348 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs749628246
CA393124189
350 G>C No ClinGen
ExAC
gnomAD
CA7652475
rs749628246
350 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1169828822
CA393124227
351 F>C No ClinGen
TOPMed
rs1163670302
CA393124271
353 R>H No ClinGen
gnomAD
rs1252142924
CA393124279
354 Q>E No ClinGen
gnomAD
rs1567130417
CA393124350
358 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA272740841
rs967509295
358 R>H No ClinGen
TOPMed
CA7652480
rs375594567
360 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA272740849
rs74471420
362 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs775954834
CA7652481
362 E>Q No ClinGen
ExAC
gnomAD
rs74471420
CA7652482
362 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs1449390274
CA393124456
365 Q>H No ClinGen
TOPMed
gnomAD
rs764951444
CA7652484
368 Q>R No ClinGen
ExAC
gnomAD
CA393124497
rs1267279902
369 A>T No ClinGen
gnomAD
rs752448206
CA7652485
370 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7652488
rs751376158
371 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA272740858
rs773725664
372 R>C No ClinGen
ExAC
gnomAD
rs773725664
CA7652489
372 R>G No ClinGen
ExAC
gnomAD
COSM1517515
CA393124542
COSM1517513
COSM1517514
rs1309900464
372 R>L lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA7652490
rs767515993
373 T>A No ClinGen
ExAC
gnomAD
CA272740861
rs545588296
374 D>G No ClinGen
TOPMed
CA393124576
rs1418125536
375 G>A No ClinGen
gnomAD
rs1418125536
CA393124574
375 G>D No ClinGen
gnomAD
rs780238004
CA7652493
376 F>L No ClinGen
ExAC
gnomAD
CA7652495
rs377747936
377 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 377 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371413149
CA7652496
378 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1358921256
CA393124639
380 K>E No ClinGen
TOPMed
gnomAD
rs937867488
CA393124677
382 R>C No ClinGen
TOPMed
gnomAD
CA7652497
rs149871195
382 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149871195
CA7652498
382 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs937867488
CA272740892
382 R>S No ClinGen
TOPMed
gnomAD
CA393124686
rs1329692309
383 L>R No ClinGen
gnomAD
CA393124690
rs1203975549
384 Q>K No ClinGen
TOPMed
rs745349363
CA7652500
385 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1458563717
CA393124711
385 D>N No ClinGen
TOPMed
gnomAD
rs1315028133
CA393124726
386 L>V No ClinGen
gnomAD
rs369148720
CA272740898
387 S>T No ClinGen
Ensembl
rs769487892
CA7652501
388 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA393124756
rs1317401607
388 S>T No ClinGen
TOPMed
CA393124775
rs1238028144
389 C>Y No ClinGen
TOPMed
rs1180638019
CA393124811
391 T>N No ClinGen
gnomAD
CA7652502
rs775280848
392 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs762629473
CA7652503
392 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA7652504
rs763855841
394 K>T No ClinGen
ExAC
gnomAD
rs867104191
CA272741428
395 D>G No ClinGen
TOPMed
CA393125483
rs1434304568
397 A>T No ClinGen
Ensembl
CA393125497
rs1595904100
397 A>V No ClinGen
Ensembl
rs768386792
CA7652522
402 A>P No ClinGen
ExAC
gnomAD
CA7652523
rs142023780
403 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1457054837
CA393125591
404 P>A No ClinGen
TOPMed
rs1047960171
CA272741433
404 P>L No ClinGen
TOPMed
gnomAD
CA393125601
rs1047960171
404 P>R No ClinGen
TOPMed
gnomAD
CA7652524
rs761496643
406 A>P No ClinGen
ExAC
gnomAD
rs767411421
CA7652525
408 S>G No ClinGen
ExAC
gnomAD
CA393125645
rs767411421
408 S>R No ClinGen
ExAC
gnomAD
CA7652526
rs772885645
409 T>S No ClinGen
ExAC
gnomAD
TCGA novel 410 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393125724
rs1262379239
412 D>N No ClinGen
TOPMed
rs766326578
CA393125789
416 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs766326578
CA7652528
416 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs145863996
CA7652529
417 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs543631733 419 P>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs866169120
CA393108518
419 P>L No ClinGen
gnomAD
rs866169120
CA272722049
419 P>R No ClinGen
gnomAD
rs763180010
CA7652553
420 E>A No ClinGen
ExAC
rs565219584
CA7652552
420 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764247291
CA7652554
422 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs867206689
CA272722075
423 E>G No ClinGen
Ensembl
CA393108547
rs1480851109
424 R>K No ClinGen
TOPMed
CA7652555
rs751936860
424 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 425 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746160914
CA272722078
427 A>T No ClinGen
gnomAD
CA393108588
rs1219908926
430 Q>R No ClinGen
TOPMed
rs751033700
CA7652558
431 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1567135316
CA393108596
431 A>V No ClinGen
Ensembl
rs778426636
CA7652560
433 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA272722087
rs758611701
434 L>M No ClinGen
Ensembl
rs747633287
CA7652561
437 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs771715585
CA7652562
438 Q>R No ClinGen
ExAC
gnomAD
rs772181249
CA272722102
440 M>V No ClinGen
TOPMed
gnomAD
rs866380391
CA272722118
441 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1595913715
CA393108659
442 V>G No ClinGen
Ensembl
CA393108667
rs1595913719
443 V>G No ClinGen
Ensembl
rs777441794
CA7652563
CA393108694
448 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs746784735
CA7652564
449 A>V No ClinGen
ExAC
gnomAD
rs1273869549
CA393108709
450 H>L No ClinGen
TOPMed
TCGA novel 452 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1256891305
CA393108722
452 V>E No ClinGen
gnomAD
COSM964735
rs759404689
CA7652567
COSM964736
COSM964733
452 V>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA393108730
rs1488618225
454 V>L No ClinGen
gnomAD
rs1488618225
CA393108729
454 V>M No ClinGen
gnomAD
CA7652568
rs769635059
455 Y>N No ClinGen
ExAC
gnomAD
rs11555843
CA7652570
456 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA272722146
rs143771296
458 S>F No ClinGen
ESP
TOPMed
CA7652571
rs148158604
461 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA393108779
rs148158604
461 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1398970294
CA393108785
462 P>L No ClinGen
gnomAD
CA393108791
rs1436188555
463 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1298048139
CA393108796
464 Y>C No ClinGen
TOPMed
gnomAD
CA272722152
rs1008530876
465 G>E No ClinGen
Ensembl
CA7652572
rs774767661
466 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs769734938
CA7652586
470 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA7652588
rs200123201
472 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA393108874
rs1294097306
475 Q>K No ClinGen
Ensembl
rs774573419
CA7652590
478 K>R No ClinGen
ExAC
gnomAD
CA393108901
rs774573419
478 K>T No ClinGen
ExAC
gnomAD
CA7652591
rs762065759
479 C>S No ClinGen
ExAC
gnomAD
rs773669860
CA7652593
480 S>R No ClinGen
ExAC
gnomAD
CA393108916
rs1264097177
480 S>T No ClinGen
gnomAD
CA393108931
rs1252189977
482 T>I No ClinGen
TOPMed
gnomAD
rs760985638
CA7652594
483 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA7652595
rs766886570
485 P>L No ClinGen
ExAC
gnomAD
rs1163353594
COSM1608663
CA393108974
COSM3706723
COSM1608661
COSM1608662
487 K>N liver [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1420597564
CA393109020
491 M>L No ClinGen
gnomAD
TCGA novel 494 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393109106
rs1460372560
496 G>V No ClinGen
gnomAD
CA272722432
rs1040029293
499 A>G No ClinGen
gnomAD
CA393109144
rs1325628964
499 A>S No ClinGen
gnomAD
CA393109140
rs1325628964
499 A>T No ClinGen
gnomAD
CA393109147
rs1040029293
499 A>V No ClinGen
gnomAD
CA272722437
rs897508286
502 A>S No ClinGen
TOPMed
gnomAD
CA7652599
rs751085157
503 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7652598
rs763529879
503 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs756856518
CA7652600
505 S>F No ClinGen
ExAC
gnomAD
CA393109193
rs1206488056
506 P>A No ClinGen
TOPMed
CA7652601
rs202019975
506 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA393109229
rs1217033720
509 P>S No ClinGen
TOPMed
CA393109251
rs1595914612
510 R>S No ClinGen
Ensembl
rs1595914627
CA393109285
513 T>P No ClinGen
Ensembl
CA7652605
rs749109993
515 K>R No ClinGen
ExAC
gnomAD
CA393109332
rs768725303
517 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA7652606
rs768725303
517 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs886310440
CA272722482
519 P>A No ClinGen
TOPMed
rs772391650
CA7652609
520 P>L No ClinGen
ExAC
gnomAD
CA7652608
rs748267579
520 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1463802797
CA393109369
521 H>D No ClinGen
TOPMed
gnomAD
CA393109373
rs1166540601
521 H>P No ClinGen
TOPMed
gnomAD
CA393109371
rs1463802797
521 H>Y No ClinGen
TOPMed
gnomAD
CA393109385
rs1395992192
522 L>Q No ClinGen
gnomAD
CA393109400
rs1462902978
523 D>E No ClinGen
TOPMed
rs370723883
CA7652610
525 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7652612
rs771267596
526 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1292537881
CA393109462
528 P>H No ClinGen
gnomAD
CA7652614
rs759979414
530 S>I No ClinGen
ExAC
gnomAD
rs146047180
CA7652615
532 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393109519
rs1211232615
533 I>T No ClinGen
gnomAD
CA393109514
rs1264938598
533 I>V No ClinGen
TOPMed
rs761356725
CA7652617
536 E>A No ClinGen
ExAC
gnomAD
CA7652618
rs767138681
537 V>I No ClinGen
ExAC
gnomAD
rs779652279
CA7652621
543 N>K No ClinGen
ExAC
gnomAD
TCGA novel 544 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA272722529
rs867299859
545 V>M No ClinGen
TOPMed
gnomAD
CA393109731
rs1175685867
547 S>R No ClinGen
gnomAD
CA393109743
rs1292101503
548 G>D No ClinGen
gnomAD
CA7652624
rs11855663
RCV000880310
549 A>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7652627
rs146326362
550 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374199653
CA7652626
550 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1325735061 551 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771198810
CA7652629
552 A>T No ClinGen
ExAC
gnomAD
rs1325710733
CA393109795
553 E>K No ClinGen
gnomAD
CA393111203
rs1567136651
554 E>V No ClinGen
Ensembl
CA393111213
rs1237579574
555 R>C No ClinGen
TOPMed
CA7652672
rs200546578
555 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746515572
CA7652675
556 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs746515572
CA7652674
556 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA393111307
rs1312140456
561 S>T No ClinGen
TOPMed
CA272723175
rs375611361
564 D>N No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs764959569
CA7652678
565 S>T No ClinGen
ExAC
CA393111381
rs1309299270
566 D>E No ClinGen
Ensembl
CA7652682
rs371956504
567 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7652680
rs762767132
567 A>T No ClinGen
ExAC
rs371956504
CA7652681
567 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM964746
rs1026561797
CA272723187
COSM964749
COSM964748
568 E>K Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs767645907
CA7652684
569 N>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 570 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765859108
CA7652957
571 S>F No ClinGen
ExAC
gnomAD
CA7652960
rs778493023
573 R>* No ClinGen
ExAC
gnomAD
CA7652961
rs752502722
573 R>Q No ClinGen
ExAC
gnomAD
COSM1608664
rs746979292
CA7652964
579 S>I liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs200104189
CA7652965
580 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1399653982
CA393118029
582 S>F No ClinGen
TOPMed
CA272727987
rs958002310
582 S>T No ClinGen
TOPMed
CA393118036
rs1257908951
583 S>G No ClinGen
TOPMed
gnomAD
CA7652966
rs148332748
583 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393118057
rs1458109267
584 D>E No ClinGen
gnomAD
CA393118136
rs1481001295
590 P>L No ClinGen
gnomAD
CA7652968
rs770162831
591 S>R No ClinGen
ExAC
TCGA novel 593 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7652970
rs775792287
CA7652969
594 R>S No ClinGen
ExAC
gnomAD
rs1275457313
CA393118189
595 V>A No ClinGen
TOPMed
gnomAD
rs11272
CA272728023
598 E>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs143616011
CA7652974
598 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs11272
CA7652973
598 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs371806874
CA7652975
599 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7652976
rs758989714
600 L>I No ClinGen
ExAC
gnomAD
CA272728034
rs995252356
601 A>P No ClinGen
Ensembl
CA7652978
rs368061525
602 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7652979
rs758035628
603 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1246714490
CA393118284
603 P>S No ClinGen
gnomAD
rs1246714490
CA393118280
603 P>T No ClinGen
gnomAD
rs751337106
CA7652981
607 D>N No ClinGen
ExAC
gnomAD
CA393118339
rs371624259
608 R>* No ClinGen
ESP
TOPMed
CA272728055
rs371624259
608 R>G No ClinGen
ESP
TOPMed
rs757172711
CA7652982
609 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs757172711
CA393118359
609 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1161773321
CA393118369
610 L>P No ClinGen
gnomAD
rs781134737
CA393118479
616 K>E No ClinGen
ExAC
gnomAD
CA7652983
rs781134737
616 K>Q No ClinGen
ExAC
gnomAD
CA393118507
rs1400277229
617 I>T No ClinGen
gnomAD
rs745955110
CA7652984
619 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA393118570
rs1434374702
620 E>A No ClinGen
gnomAD
rs762475037
CA7653015
621 T>N No ClinGen
ExAC
gnomAD
TCGA novel 622 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1248855090
CA393120297
622 Q>R No ClinGen
gnomAD
CA272728483
rs924871120
623 K>R No ClinGen
TOPMed
rs773983495
CA7653018
624 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA393120336
rs1186703766
625 S>N No ClinGen
gnomAD
CA7653019
rs761363933
626 Q>E No ClinGen
ExAC
gnomAD
CA7653020
rs147197708
626 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140558473
CA7653022
627 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393120380
rs1404163177
629 A>S No ClinGen
gnomAD
rs1468020613
CA393120382
629 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA272728489
rs373236341
631 N>S No ClinGen
Ensembl
CA7653025
rs574698430
632 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs142900813
CA7653024
632 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7653026
rs772041580
634 S>N No ClinGen
ExAC
gnomAD
rs1595923646
CA393120471
636 F>S No ClinGen
Ensembl
rs753021611
CA393120481
637 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs753021611
CA7653027
637 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA393120485
rs1234689753
637 R>H No ClinGen
gnomAD
rs778153703
CA7653029
638 V>M No ClinGen
ExAC
gnomAD
CA7653031
rs747332047
642 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs747332047
CA393120541
642 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA7653033
rs781620616
643 E>K No ClinGen
ExAC
gnomAD
rs768274916
CA7653035
645 F>C No ClinGen
ExAC
gnomAD
rs5742915
VAR_052090
CA7653034
645 F>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA393120578
rs5742915
645 F>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA393120659
rs1474850595
651 K>E No ClinGen
TOPMed
rs761108099
CA272728543
653 V>A No ClinGen
gnomAD
rs761108099
CA393120686
653 V>E No ClinGen
gnomAD
CA7653038
rs771816629
653 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA393120682
rs771816629
653 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs773166495
CA7653039
654 S>C No ClinGen
ExAC
gnomAD
rs1252366505
CA393120689
654 S>T No ClinGen
TOPMed
rs773166495
CA7653040
654 S>Y No ClinGen
ExAC
gnomAD
rs1304100114
CA393120718
656 E>A No ClinGen
TOPMed
gnomAD
CA7653041
rs766424051
658 G>R No ClinGen
ExAC
gnomAD
CA7653043
rs759381921
660 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA393120784
rs758676057
661 H>Q No ClinGen
ExAC
gnomAD
CA7653045
rs752691619
661 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs777920303
COSM471044
CA7653047
662 F>L kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA393120877
rs1270993926
667 S>N No ClinGen
gnomAD
CA7653048
rs751931798
669 M>L No ClinGen
ExAC
gnomAD
rs1412523768
CA393120900
669 M>T No ClinGen
gnomAD
CA7653049
COSM1374492
rs202099881
670 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs781533017
CA7653050
670 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7653051
rs746444712
671 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs149885467
CA7653052
671 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 672 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs367820386
CA7653054
673 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7653053
rs367820386
673 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7653055
rs534126343
675 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1309165417
CA393120996
677 Y>H No ClinGen
gnomAD
CA393121025
rs1409016428
678 K>N No ClinGen
TOPMed
rs760399378
CA7653057
679 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA272728576
rs1029424334
680 W>* No ClinGen
TOPMed
gnomAD
CA393121047
rs1567141785
680 W>C No ClinGen
Ensembl
rs770911206
CA7653058
681 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA393121053
rs1306604077
681 G>R No ClinGen
gnomAD
rs952161997
CA272728585
684 L>F No ClinGen
Ensembl
CA7653061
rs765048167
685 P>L No ClinGen
ExAC
gnomAD
rs752841570
CA7653062
686 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs752841570
CA393121104
686 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1252422504
CA393121141
688 F>L No ClinGen
gnomAD
rs764300823
CA7653064
689 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7653063
rs762959382
689 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA7653065
rs751842032
690 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs757456915
CA7653066
690 A>V No ClinGen
ExAC
gnomAD
TCGA novel 696 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1169830713
CA393121238
696 R>T No ClinGen
gnomAD
CA393121253
rs1356752075
697 L>R No ClinGen
gnomAD
CA393121323
rs780369568
702 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs780369568
CA7653070
702 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs916147857
CA272728619
702 E>V No ClinGen
Ensembl
rs758050411
CA7653072
705 S>A No ClinGen
ExAC
gnomAD
rs376941681
CA7653073
705 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376941681
CA393121371
705 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 706 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1314377363
CA393121376
706 G>S No ClinGen
TOPMed
rs573612912
CA7653074
708 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA7653075
rs372005113
709 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776522964
CA7653076
710 A>S No ClinGen
ExAC
gnomAD
rs745598226
CA7653077
713 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs934681999
CA272728650
714 I>T No ClinGen
Ensembl
CA7653079
rs769781945
715 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs762869380
CA7653080
715 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7653078
rs769781945
715 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs367988522
CA272728654
717 R>C No ClinGen
ESP
TOPMed
gnomAD
rs367988522
CA393121494
717 R>G No ClinGen
ESP
TOPMed
gnomAD
CA393121500
rs1185108539
717 R>H No ClinGen
TOPMed
gnomAD
CA393121497
rs1185108539
717 R>L No ClinGen
TOPMed
gnomAD
rs764216789
CA7653081
719 P>H No ClinGen
ExAC
gnomAD
TCGA novel 719 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7653083
rs762061870
720 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA272728695
rs559192849
721 A>T No ClinGen
Ensembl
CA393121525
rs1408649253
722 S>N No ClinGen
gnomAD
CA7653084
rs767593867
724 F>L No ClinGen
ExAC
gnomAD
CA7653085
rs111398700
725 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA393121572
rs1595923777
728 N>K No ClinGen
Ensembl
CA272728697
rs1047741654
730 A>S No ClinGen
TOPMed
gnomAD
rs1047741654
CA393121580
730 A>T No ClinGen
TOPMed
gnomAD
CA393121588
rs1335019509
731 Q>R No ClinGen
gnomAD
CA7653086
rs140696630
732 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393121609
rs1435933113
734 L>P No ClinGen
gnomAD
rs755524243
CA7653089
735 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs777469680
CA7653090
736 R>* No ClinGen
ExAC
gnomAD
CA7653092
rs577626364
738 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs746481117
CA7653091
738 M>V No ClinGen
ExAC
gnomAD
rs780649478
CA393121637
739 S>G No ClinGen
ExAC
gnomAD
CA7653093
rs780649478
739 S>R No ClinGen
ExAC
gnomAD
rs1460558038
CA393121639
739 S>T No ClinGen
gnomAD
CA7653094
rs745678082
740 E>K No ClinGen
ExAC
gnomAD
rs745678082
CA393121643
740 E>Q No ClinGen
ExAC
gnomAD
CA7653096
rs769540520
741 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369136208
CA7653097
741 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7653095
rs769540520
741 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA393121662
rs566939707
743 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs566939707
CA7653099
743 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA393121669
rs1174666365
744 M>K No ClinGen
TOPMed
gnomAD
rs1174666365
CA393121670
744 M>T No ClinGen
TOPMed
gnomAD
rs767787538
CA7653101
747 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1430073273
CA393121700
748 L>R No ClinGen
gnomAD
rs867495375
CA272728785
749 A>T No ClinGen
TOPMed
gnomAD
CA7653104
rs766703777
749 A>V No ClinGen
ExAC
gnomAD
CA7653105
rs754228130
750 M>T No ClinGen
ExAC
gnomAD
CA393121716
rs1225133713
750 M>V No ClinGen
gnomAD
rs760154145
CA7653106
751 R>C Variant assessed as Somatic; 5.762e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760154145
CA272728789
751 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs545201747
CA7653107
751 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs760154145
CA393121734
751 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 752 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA272728792
rs995197860
752 D>H No ClinGen
Ensembl
CA7653108
rs751125523
753 L>V No ClinGen
ExAC
gnomAD
rs1307900203
CA393121769
754 C>S No ClinGen
gnomAD
rs756651718
CA7653109
755 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7653110
rs780746013
755 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 757 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755769375
CA7653112
758 E>K No ClinGen
ExAC
gnomAD
TCGA novel 758 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7653113
rs755769375
758 E>Q No ClinGen
ExAC
gnomAD
rs768601255
CA393121855
759 V>F No ClinGen
ExAC
gnomAD
TCGA novel 759 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768601255
CA7653115
759 V>L No ClinGen
ExAC
gnomAD
CA272728840
rs959133455
760 S>F No ClinGen
TOPMed
rs200757566
CA7653117
761 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7653118
rs748074472
761 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA393121876
rs748074472
761 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA7653120
rs140925157
762 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140925157
CA393121895
762 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1012203019
CA272728849
763 P>L No ClinGen
TOPMed
gnomAD
CA7653122
rs771147774
767 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 770 Y>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1023224519
CA272728880
773 S>I No ClinGen
TOPMed
gnomAD
CA393122080
rs1220973529
774 S>G No ClinGen
TOPMed
gnomAD
rs924896245
CA272728883
777 C>R No ClinGen
Ensembl
rs765841772
CA7653125
777 C>W No ClinGen
ExAC
gnomAD
rs1231412287
CA393122188
779 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1429292269
CA393122218
781 L>P No ClinGen
TOPMed
CA393122273
rs1387227893
785 V>M No ClinGen
gnomAD
CA393122290
rs1261515211
786 Q>* No ClinGen
TOPMed
CA393122293
rs1261515211
786 Q>K No ClinGen
TOPMed
rs1422798425
CA393122326
787 A>V No ClinGen
TOPMed
gnomAD
rs1409624673
CA393122336
788 A>D No ClinGen
TOPMed
gnomAD
rs766980954
CA7653128
791 P>H No ClinGen
ExAC
gnomAD
CA393122372
rs1410347513
791 P>S No ClinGen
gnomAD
CA7653132
rs374210403
792 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374210403
CA7653131
792 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7653130
rs61751125
792 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1384418899
CA393122443
795 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs754836240
CA7653133
COSM3771884
796 R>C Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs188674537
CA7653134
796 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs565387284
CA7653136
797 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs1271413648
CA393122481
798 L>P No ClinGen
TOPMed
gnomAD
rs1271413648
CA393122482
798 L>R No ClinGen
TOPMed
gnomAD
CA393122486
rs1437601990
799 A>T No ClinGen
TOPMed
gnomAD
CA7653139
rs202062354
803 V>L No ClinGen
1000Genomes
ExAC
CA7653140
rs202062354
803 V>M No ClinGen
1000Genomes
ExAC
CA393122571
rs1328069485
804 S>N No ClinGen
TOPMed
gnomAD
CA7653141
rs776923981
804 S>R No ClinGen
ExAC
gnomAD
rs1299927443
CA393122662
808 L>P No ClinGen
TOPMed
CA7653144
rs770336594
810 S>I No ClinGen
ExAC
gnomAD
CA7653143
rs770336594
810 S>N No ClinGen
ExAC
gnomAD
rs763409135
CA7653145
811 A>T No ClinGen
ExAC
gnomAD
CA393122724
rs1169575330
811 A>V No ClinGen
gnomAD
CA393122743
rs1441478097
812 H>R No ClinGen
gnomAD
rs1037329656
CA272728957
813 R>C No ClinGen
gnomAD
CA393122751
rs1037329656
813 R>G No ClinGen
gnomAD
CA7653146
rs566711622
813 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7653147
rs772617875
814 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7653148
rs200577511
814 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs138772531
CA7653149
816 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201288185
CA272728965
816 R>W No ClinGen
gnomAD
rs1326505687
CA393122845
817 Q>H No ClinGen
gnomAD
rs753549555
CA7653151
817 Q>L No ClinGen
ExAC
CA7653154
rs752500365
818 G>E No ClinGen
ExAC
CA393122850
rs754603424
CA7653152
818 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7653153
rs754603424
818 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA393122867
rs1339183772
819 G>R No ClinGen
TOPMed
gnomAD
rs1339183772
CA393122864
819 G>S No ClinGen
TOPMed
gnomAD
CA393122874
rs1453073399
819 G>V No ClinGen
TOPMed
CA393122889
rs1595923967
820 L>P No ClinGen
Ensembl
CA393122896
rs1595923968
821 K>E No ClinGen
Ensembl
rs758294457
CA7653155
821 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 824 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393122986
rs1196974578
825 R>H No ClinGen
TOPMed
CA7653157
rs373296015
826 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373296015
CA393123008
826 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7653158
rs757475807
827 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA393123103
rs1202551662
831 T>N No ClinGen
TOPMed
CA393123126
rs1371232169
832 T>I No ClinGen
gnomAD
rs1473024247
CA393123130
833 T>A No ClinGen
TOPMed
CA7653160
rs746137264
833 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 836 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749615160
CA7653164
836 P>S No ClinGen
ExAC
gnomAD
CA7653165
rs141646523
837 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs112105465
CA272729008
838 Q>H No ClinGen
Ensembl
CA7653167
rs762214399
839 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA393123251
rs1306454478
839 P>L No ClinGen
TOPMed
CA393123242
rs762214399
839 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs762214399
CA393123239
839 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA7653168
rs200030114
840 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA393123330
rs1285510885
844 Q>R No ClinGen
gnomAD
CA393123344
rs1223190247
845 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs759218798
CA7653170
845 A>V No ClinGen
ExAC
gnomAD
CA393123384
rs1486910944
847 G>D No ClinGen
gnomAD
TCGA novel 847 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 848 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7653171
rs764824094
850 F>L No ClinGen
ExAC
gnomAD
rs752452667
CA7653172
851 E>D No ClinGen
ExAC
gnomAD
CA7653174
rs763790024
852 G>V No ClinGen
ExAC
gnomAD
TCGA novel 854 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745901836
CA7653178
856 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA7653179
COSM555984
rs756426423
857 P>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA393123607
rs1156244389
857 P>T No ClinGen
gnomAD
CA7653181
rs79562667
858 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7653184
rs748693881
859 L>M No ClinGen
ExAC
rs753052629
CA272729045
860 A>G No ClinGen
Ensembl
rs370339805
CA393123705
861 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7653186
rs370339805
861 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138817062
CA7653185
861 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393123712
rs1567142187
862 A>T No ClinGen
Ensembl
rs1236987495
CA393123767
863 E>A No ClinGen
gnomAD
CA393123768
rs1236987495
863 E>G No ClinGen
gnomAD
rs769338190
CA7653189
868 P>S No ClinGen
ExAC
gnomAD
CA7653190
rs775282344
870 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1567142199
CA393123952
871 G>V No ClinGen
Ensembl
CA7653191
rs762496523
872 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs762496523
CA393123965
872 R>G No ClinGen
ExAC
TOPMed
gnomAD
COSM1221319
rs199966678
CA7653192
872 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs538388118
CA7653193
873 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA393124109
rs1595924064
877 R>T No ClinGen
Ensembl
CA393124126
rs1420438059
878 A>V No ClinGen
gnomAD
CA393124190
rs1379215863
881 Q>* No ClinGen
gnomAD
rs750544529
CA7653196
883 S>W No ClinGen
ExAC
TOPMed
gnomAD

1 associated diseases with P29590

Without disease ID

7 regional properties for P29590

Type Name Position InterPro Accession
domain AAA+ ATPase domain 159 - 295 IPR003593
domain ATPase, AAA-type, core 163 - 293 IPR003959
conserved_site ATPase, AAA-type, conserved site 265 - 284 IPR003960
domain MIT domain 2 - 80 IPR007330
domain Spastin/Vps4, C-terminal 374 - 434 IPR015415
domain AAA ATPase, AAA+ lid domain 316 - 350 IPR041569
domain Vacuolar protein sorting-associated protein 4, MIT domain 4 - 79 IPR045253

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Nucleus, nucleoplasm
  • Cytoplasm
  • Nucleus, PML body
  • Nucleus, nucleolus
  • Endoplasmic reticulum membrane ; Peripheral membrane protein ; Cytoplasmic side
  • Early endosome membrane; Peripheral membrane protein; Cytoplasmic side
  • Isoform PML-1 can shuttle between the nucleus and cytoplasm
  • Isoform PML-2, isoform PML-3, isoform PML-4, isoform PML-5 and isoform PML-6 are nuclear isoforms whereas isoform PML-7 and isoform PML-14 lacking the nuclear localization signal are cytoplasmic isoforms
  • Detected in the nucleolus after DNA damage
  • Acetylation at Lys-487 is essential for its nuclear localization
  • Within the nucleus, most of PML is expressed in the diffuse nuclear fraction of the nucleoplasm and only a small fraction is found in the matrix-associated nuclear bodies (PML-NBs)
  • The transfer of PML from the nucleoplasm to PML-NBs depends on its phosphorylation and sumoylation
  • The B1 box and the RING finger are also required for the localization in PML-NBs
  • Also found in specific membrane structures termed mitochondria-associated membranes (MAMs) which connect the endoplasmic reticulum (ER) and the mitochondria
  • Sequestered in the cytoplasm by interaction with rabies virus phosphoprotein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

13 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromosome, telomeric region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome membrane The lipid bilayer surrounding an early endosome.
extrinsic component of endoplasmic reticulum membrane The component of the endoplasmic reticulum membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
heterochromatin A compact and highly condensed form of chromatin that is refractory to transcription.
nuclear matrix The dense fibrillar network lying on the inner side of the nuclear membrane.
nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.
PML body A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.

13 GO annotations of molecular function

Name Definition
cobalt ion binding Binding to a cobalt ion (Co).
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
identical protein binding Binding to an identical protein or proteins.
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity Binding to an identical protein to form a homodimer.
SMAD binding Binding to a SMAD signaling protein.
SUMO binding Binding to the small ubiquitin-like protein SUMO.
SUMO transferase activity Catalysis of the transfer of SUMO from one protein to another via the reaction X-SUMO + Y --> Y-SUMO + X, where both X-SUMO and Y-SUMO are covalent linkages.
sumo-dependent protein binding Binding to a protein upon sumoylation of the target protein.
transcription coactivator activity A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.
ubiquitin protein ligase binding Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
ubiquitin-protein transferase activity Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages.
zinc ion binding Binding to a zinc ion (Zn).

62 GO annotations of biological process

Name Definition
activation of cysteine-type endopeptidase activity involved in apoptotic process Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
branching involved in mammary gland duct morphogenesis The process in which the branching structure of the mammary gland duct is generated and organized. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk.
cell fate commitment The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.
cellular response to interleukin-4 Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-4 stimulus.
cellular response to leukemia inhibitory factor Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leukemia inhibitory factor stimulus.
cellular senescence A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest.
circadian regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours.
common-partner SMAD protein phosphorylation The process of introducing a phosphate group on to a common-partner SMAD protein. A common partner SMAD protein binds to pathway-restricted SMAD proteins forming a complex that translocates to the nucleus.
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage and resulting in the stopping or reduction in rate of the cell cycle.
endoplasmic reticulum calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within the endoplasmic reticulum of a cell or between the endoplasmic reticulum and its surroundings.
entrainment of circadian clock by photoperiod The synchronization of a circadian rhythm to photoperiod, the intermittent cycle of light (day) and dark (night).
extrinsic apoptotic signaling pathway The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with either a ligand binding to a cell surface receptor, or a ligand being withdrawn from a cell surface receptor (e.g. in the case of signaling by dependence receptors), and ends when the execution phase of apoptosis is triggered.
fibroblast migration Cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium. A fibroblast is a connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
intrinsic apoptotic signaling pathway in response to DNA damage The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.
intrinsic apoptotic signaling pathway in response to oxidative stress The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, and ends when the execution phase of apoptosis is triggered.
maintenance of protein location in nucleus Any process in which a protein is maintained in the nucleus and prevented from moving elsewhere. These include sequestration within the nucleus, protein stabilization to prevent transport elsewhere and the active retrieval of proteins that escape the nucleus.
myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages.
negative regulation of angiogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis.
negative regulation of cell growth Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of DNA-templated transcription Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of interleukin-1 beta production Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-1 beta production.
negative regulation of mitotic cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle.
negative regulation of telomerase activity Any process that stops or reduces the activity of the enzyme telomerase, which catalyzes of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
negative regulation of telomere maintenance via telomerase Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of telomeric repeats by telomerase.
negative regulation of translation in response to oxidative stress Any process that stops, prevents, or reduces the frequency, rate or extent of translation as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
negative regulation of ubiquitin-dependent protein catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of ubiquitin-dependent protein catabolic process.
oncogene-induced cell senescence A cellular senescence process associated with the dismantling of a cell as a response to oncogenic stress, such as the activation of the Ras oncogenic family.
PML body organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of PML bodies, a class of nuclear body; they react against SP100 auto-antibodies (PML = promyelocytic leukemia).
positive regulation of apoptotic process involved in mammary gland involution Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process of mammary epithelial cells during mammary gland involution.
positive regulation of defense response to virus by host Any host process that results in the promotion of antiviral immune response mechanisms, thereby limiting viral replication.
positive regulation of DNA-templated transcription Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of extrinsic apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of extrinsic apoptotic signaling pathway.
positive regulation of fibroblast proliferation Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells.
positive regulation of histone deacetylation Any process that activates or increases the frequency, rate or extent of the removal of acetyl groups from histones.
positive regulation of peptidyl-lysine acetylation Any process that activates or increases the frequency, rate or extent of peptidyl-lysine acetylation.
positive regulation of protein localization to chromosome, telomeric region Any process that activates or increases the frequency, rate or extent of protein localization to chromosome, telomeric region.
positive regulation of signal transduction by p53 class mediator Any process that activates or increases the frequency, rate or extent of signal transduction by p53 class mediator.
positive regulation of telomere maintenance Any process that activates or increases the frequency, rate or extent of a process that affects and monitors the activity of telomeric proteins and the length of telomeric DNA.
proteasome-mediated ubiquitin-dependent protein catabolic process The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
protein import into nucleus The directed movement of a protein from the cytoplasm to the nucleus.
protein stabilization Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
protein targeting The process of targeting specific proteins to particular regions of the cell, typically membrane-bounded subcellular organelles. Usually requires an organelle specific protein sequence motif.
protein-containing complex assembly The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
protein-containing complex localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location.
regulation of calcium ion transport into cytosol Any process that modulates the rate of the directed movement of calcium ions into the cytosol of a cell. The cytosol is that part of the cytoplasm that does not contain membranous or particulate subcellular components.
regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.
regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle.
regulation of circadian rhythm Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of double-strand break repair Any process that modulates the frequency, rate or extent of double-strand break repair.
response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus.
response to gamma radiation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum.
response to hypoxia Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
response to UV Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
retinoic acid receptor signaling pathway The series of molecular signals generated as a consequence of a retinoic acid receptor binding to one of its physiological ligands.
suppression of viral release by host A process in which a host organism stops, prevents or reduces the frequency, rate or extent of the release of a virus with which it is infected, from its cells.
transforming growth factor beta receptor signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

46 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5E9G4 TRIM10 Tripartite motif-containing protein 10 Bos taurus (Bovine) PR
Q2T9Z0 TRIM17 E3 ubiquitin-protein ligase TRIM17 Bos taurus (Bovine) PR
E1BJS7 TRIM71 E3 ubiquitin-protein ligase TRIM71 Bos taurus (Bovine) PR
Q7YRV4 TRIM21 E3 ubiquitin-protein ligase TRIM21 Bos taurus (Bovine) PR
Q1PRL4 TRIM71 E3 ubiquitin-protein ligase TRIM71 Gallus gallus (Chicken) PR
Q7YR32 TRIM10 Tripartite motif-containing protein 10 Pan troglodytes (Chimpanzee) PR
O15553 MEFV Pyrin Homo sapiens (Human) SS
Q9BTV5 FSD1 Fibronectin type III and SPRY domain-containing protein 1 Homo sapiens (Human) PR
Q9H2S5 RNF39 RING finger protein 39 Homo sapiens (Human) PR
P19474 TRIM21 E3 ubiquitin-protein ligase TRIM21 Homo sapiens (Human) PR
Q9UJV3 MID2 Probable E3 ubiquitin-protein ligase MID2 Homo sapiens (Human) PR
Q9C029 TRIM7 E3 ubiquitin-protein ligase TRIM7 Homo sapiens (Human) PR
Q9NQ86 TRIM36 E3 ubiquitin-protein ligase TRIM36 Homo sapiens (Human) PR
Q86UV6 TRIM74 Tripartite motif-containing protein 74 Homo sapiens (Human) PR
Q9UPQ4 TRIM35 E3 ubiquitin-protein ligase TRIM35 Homo sapiens (Human) PR
Q6ZMU5 TRIM72 Tripartite motif-containing protein 72 Homo sapiens (Human) PR
Q86UV7 TRIM73 Tripartite motif-containing protein 73 Homo sapiens (Human) PR
Q8N9V2 TRIML1 Probable E3 ubiquitin-protein ligase TRIML1 Homo sapiens (Human) PR
Q86XT4 TRIM50 E3 ubiquitin-protein ligase TRIM50 Homo sapiens (Human) PR
Q5EBN2 TRIM61 Putative tripartite motif-containing protein 61 Homo sapiens (Human) PR
Q9BZY9 TRIM31 E3 ubiquitin-protein ligase TRIM31 Homo sapiens (Human) PR
Q2Q1W2 TRIM71 E3 ubiquitin-protein ligase TRIM71 Homo sapiens (Human) PR
Q9BXM9 FSD1L FSD1-like protein Homo sapiens (Human) PR
Q9WUH5 Trim10 Tripartite motif-containing protein 10 Mus musculus (Mouse) PR
Q8BZT2 Sh3rf2 E3 ubiquitin-protein ligase SH3RF2 Mus musculus (Mouse) PR
Q7TPM3 Trim17 E3 ubiquitin-protein ligase TRIM17 Mus musculus (Mouse) PR
Q1XH17 Trim72 Tripartite motif-containing protein 72 Mus musculus (Mouse) PR
Q9JJ26 Mefv Pyrin Mus musculus (Mouse) SS
Q99PQ1 Trim12a Tripartite motif-containing protein 12A Mus musculus (Mouse) PR
Q61510 Trim25 E3 ubiquitin/ISG15 ligase TRIM25 Mus musculus (Mouse) PR
Q810I2 Trim50 E3 ubiquitin-protein ligase TRIM50 Mus musculus (Mouse) PR
Q1PSW8 Trim71 E3 ubiquitin-protein ligase TRIM71 Mus musculus (Mouse) PR
Q3TL54 Trim43a Tripartite motif-containing protein 43A Mus musculus (Mouse) PR
P86449 Trim43c Tripartite motif-containing protein 43C Mus musculus (Mouse) PR
Q60953 Pml Protein PML Mus musculus (Mouse) PR
O77666 TRIM26 Tripartite motif-containing protein 26 Sus scrofa (Pig) PR
O19085 TRIM10 Tripartite motif-containing protein 10 Sus scrofa (Pig) PR
Q865W2 TRIM50 E3 ubiquitin-protein ligase TRIM50 Sus scrofa (Pig) PR
Q920M2 Rnf39 RING finger protein 39 Rattus norvegicus (Rat) PR
Q9JJ25 Mefv Pyrin Rattus norvegicus (Rat) SS
A0JPQ4 Trim72 Tripartite motif-containing protein 72 Rattus norvegicus (Rat) PR
Q810I1 Trim50 E3 ubiquitin-protein ligase TRIM50 Rattus norvegicus (Rat) PR
D3ZVM4 Trim71 E3 ubiquitin-protein ligase TRIM71 Rattus norvegicus (Rat) PR
F6QEU4 trim71 E3 ubiquitin-protein ligase TRIM71 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q640S6 trim72 Tripartite motif-containing protein 72 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
E7FAM5 trim71 E3 ubiquitin-protein ligase TRIM71 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MEPAPARSPR PQQDPARPQE PTMPPPETPS EGRQPSPSPS PTERAPASEE EFQFLRCQQC
70 80 90 100 110 120
QAEAKCPKLL PCLHTLCSGC LEASGMQCPI CQAPWPLGAD TPALDNVFFE SLQRRLSVYR
130 140 150 160 170 180
QIVDAQAVCT RCKESADFWC FECEQLLCAK CFEAHQWFLK HEARPLAELR NQSVREFLDG
190 200 210 220 230 240
TRKTNNIFCS NPNHRTPTLT SIYCRGCSKP LCCSCALLDS SHSELKCDIS AEIQQRQEEL
250 260 270 280 290 300
DAMTQALQEQ DSAFGAVHAQ MHAAVGQLGR ARAETEELIR ERVRQVVAHV RAQERELLEA
310 320 330 340 350 360
VDARYQRDYE EMASRLGRLD AVLQRIRTGS ALVQRMKCYA SDQEVLDMHG FLRQALCRLR
370 380 390 400 410 420
QEEPQSLQAA VRTDGFDEFK VRLQDLSSCI TQGKDAAVSK KASPEAASTP RDPIDVDLPE
430 440 450 460 470 480
EAERVKAQVQ ALGLAEAQPM AVVQSVPGAH PVPVYAFSIK GPSYGEDVSN TTTAQKRKCS
490 500 510 520 530 540
QTQCPRKVIK MESEEGKEAR LARSSPEQPR PSTSKAVSPP HLDGPPSPRS PVIGSEVFLP
550 560 570 580 590 600
NSNHVASGAG EAEERVVVIS SSEDSDAENS SSRELDDSSS ESSDLQLEGP STLRVLDENL
610 620 630 640 650 660
ADPQAEDRPL VFFDLKIDNE TQKISQLAAV NRESKFRVVI QPEAFFSIYS KAVSLEVGLQ
670 680 690 700 710 720
HFLSFLSSMR RPILACYKLW GPGLPNFFRA LEDINRLWEF QEAISGFLAA LPLIRERVPG
730 740 750 760 770 780
ASSFKLKNLA QTYLARNMSE RSAMAAVLAM RDLCRLLEVS PGPQLAQHVY PFSSLQCFAS
790 800 810 820 830 840
LQPLVQAAVL PRAEARLLAL HNVSFMELLS AHRRDRQGGL KKYSRYLSLQ TTTLPPAQPA
850 860 870 880
FNLQALGTYF EGLLEGPALA RAEGVSTPLA GRGLAERASQ QS