Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q86YW0

Entry ID Method Resolution Chain Position Source
AF-Q86YW0-F1 Predicted AlphaFoldDB

542 variants for Q86YW0

Variant ID(s) Position Change Description Diseaes Association Provenance
CA6471454
rs535719220
RCV001256026
196 C>* Spermatogenic failure 17 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
rs1956460756
RCV001256028
246 L>F Spermatogenic failure 17 [ClinVar] Yes ClinVar
dbSNP
RCV001256027
rs1955655663
350 S>P Spermatogenic failure 17 [ClinVar] Yes ClinVar
dbSNP
CA6471256
RCV001332757
COSM1220994
rs758890842
385 R>Q Spermatogenic failure 17 large_intestine breast [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA6471146
rs757326350
RCV000258930
VAR_077876
489 I>F Spermatogenic failure 17 SPGF17; loss of function in egg activation [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
dbSNP
gnomAD
rs745622886
CA6471654
3 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA6471653
rs781129128
4 R>I No ClinGen
ExAC
gnomAD
rs781129128
CA233396448
4 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs747562068
CA6471630
4 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA6471629
rs778662066
6 F>I No ClinGen
ExAC
gnomAD
CA384080279
rs1436760090
8 S>L No ClinGen
gnomAD
rs1351205340
CA384080277
9 K>E No ClinGen
gnomAD
rs768055363
CA6471626
10 I>T No ClinGen
ExAC
gnomAD
CA384080264
rs1344363315
11 Q>E No ClinGen
TOPMed
rs757688976
CA6471625
COSM139949
12 D>N skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA6471623
rs764482291
14 F>S No ClinGen
ExAC
gnomAD
rs949353410
CA233395559
15 R>K No ClinGen
TOPMed
gnomAD
CA384080220
rs1220012411
17 G>R No ClinGen
gnomAD
CA384080206
rs1191492332
19 I>L No ClinGen
gnomAD
rs1248665450
CA384080201
20 N>H No ClinGen
gnomAD
rs763112497
CA6471622
21 L>V No ClinGen
ExAC
gnomAD
rs775392782
CA6471621
22 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1219478779
CA384080167
25 Q>E No ClinGen
gnomAD
rs1473811239
CA384080165
25 Q>P No ClinGen
TOPMed
rs1320608679
CA384080149
27 L>* No ClinGen
gnomAD
TCGA novel 30 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 30 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 31 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1278380911
CA384080114
32 D>G No ClinGen
gnomAD
TCGA novel 32 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372753672
CA6471620
32 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6471618
rs150538125
34 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376713289
CA6471619
34 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1173770110
CA384080094
35 C>* No ClinGen
TOPMed
rs1398904269
CA384080083
36 S>T No ClinGen
gnomAD
CA6471614
rs141710608
38 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6471613
rs747701482
38 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs931161965
CA233395527
39 H>N No ClinGen
TOPMed
TCGA novel 40 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384080031
rs1176604403
41 K>E No ClinGen
gnomAD
TCGA novel 44 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202206940
CA6471577
46 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs202206940
CA233383123
46 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA384078299
rs1456541123
48 D>E No ClinGen
gnomAD
CA384078285
rs1248422210
49 R>K No ClinGen
TOPMed
rs760831734
CA6471576
49 R>S No ClinGen
ExAC
gnomAD
rs750648027
CA6471575
51 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1426133467
CA384078236
52 Q>H No ClinGen
gnomAD
rs1406418781
CA384078214
54 R>G No ClinGen
TOPMed
gnomAD
rs1478233489
CA384078169
56 T>A No ClinGen
TOPMed
CA6471573
rs371926945
57 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6471574
rs138075971
57 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199887344
CA6471572
60 F>L No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 60 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384078098
rs1265530907
61 R>G No ClinGen
TOPMed
gnomAD
TCGA novel 61 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6471570
rs775070073
62 A>E No ClinGen
ExAC
gnomAD
CA6471569
rs775070073
62 A>G No ClinGen
ExAC
gnomAD
rs768662327
CA6471571
62 A>T No ClinGen
ExAC
gnomAD
CA384078054
rs1378868746
64 Y>* No ClinGen
gnomAD
CA6471567
rs201108085
64 Y>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745955620
CA6471564
65 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA6471566
rs745955620
65 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs779427460
CA6471563
COSM182322
65 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755411887
CA6471562
66 I>V No ClinGen
ExAC
gnomAD
CA384078031
rs1294261261
67 I>V No ClinGen
gnomAD
COSM1360546
rs753931496
CA6471561
68 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1459480434
CA384078024
68 T>S No ClinGen
TOPMed
gnomAD
rs1440802648
CA384078014
69 H>R No ClinGen
gnomAD
rs756184469
CA6471559
70 R>S No ClinGen
ExAC
gnomAD
CA6471558
rs750654459
COSM1705243
72 E>K skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA384077986
rs750654459
72 E>Q No ClinGen
ExAC
gnomAD
rs767754815
CA6471557
73 I>V No ClinGen
ExAC
gnomAD
CA6471556
rs145549980
74 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs568377547
CA6471552
78 N>H No ClinGen
1000Genomes
ExAC
gnomAD
CA384077910
rs1277992971
78 N>K No ClinGen
gnomAD
rs1355685472
CA384077915
78 N>S No ClinGen
TOPMed
gnomAD
rs1195569995
CA384077892
80 Y>C No ClinGen
TOPMed
rs1388689275
CA384077869
82 E>G No ClinGen
gnomAD
rs1302217967
CA384077876
82 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel
rs1235990040
CA384077850
83 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
rs759053785
CA6471549
84 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1644903
CA233383046
rs983663409
84 R>W NS [Cosmic] No ClinGen
cosmic curated
gnomAD
rs188614103
CA233383039
COSM1360545
87 L>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
gnomAD
CA6471547
rs201528465
89 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748467168
CA6471546
89 A>V No ClinGen
ExAC
gnomAD
rs774641368
CA6471545
90 S>T No ClinGen
ExAC
gnomAD
rs372585048
CA6471544
92 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372585048
CA384077704
92 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6471542
rs138801851
94 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384077633
rs1199710651
97 T>I No ClinGen
gnomAD
CA233383006
rs539972609
99 E>K No ClinGen
Ensembl
rs756200378
CA6471540
100 Q>K No ClinGen
ExAC
gnomAD
rs745909177
CA6471539
101 Y>H No ClinGen
ExAC
CA384077567
rs1316231294
102 A>V No ClinGen
gnomAD
rs781298617
CA384077541
103 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs781298617
CA6471538
103 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA384077499
rs368394365
CA6471537
105 M>I No ClinGen
ESP
ExAC
gnomAD
rs964760864
CA233382996
105 M>T No ClinGen
TOPMed
gnomAD
CA384077491
rs1448322168
106 S>N No ClinGen
TOPMed
TCGA novel 108 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6471536
rs751409870
109 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1565732727
CA384077432
110 A>T No ClinGen
Ensembl
CA6471534
rs149325247
111 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6471533
rs752719993
112 E>A No ClinGen
ExAC
gnomAD
rs765243398
CA6471532
113 I>V No ClinGen
ExAC
gnomAD
CA233382972
rs184534521
114 I>V No ClinGen
1000Genomes
rs143224003
CA384077290
117 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384077298
rs1592266527
117 Y>S No ClinGen
Ensembl
CA6471529
rs765962741
118 E>G No ClinGen
ExAC
gnomAD
CA6471530
rs149142969
118 E>K No ClinGen
ESP
ExAC
gnomAD
CA6471528
rs373834036
119 P>L No ClinGen
ESP
ExAC
gnomAD
rs79487790
CA6471526
120 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1366151977
CA384077264
120 I>N No ClinGen
gnomAD
rs749634271
CA6471525
121 E>D No ClinGen
ExAC
rs1442862540
CA384077262
COSM3458904
121 E>K Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA384077228
rs1258025233
122 E>A No ClinGen
gnomAD
CA384075962
rs1347741123
124 R>K No ClinGen
gnomAD
TCGA novel 125 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 125 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375295991
CA384075864
127 H>N No ClinGen
gnomAD
CA384075837
rs1565728087
127 H>Q No ClinGen
Ensembl
CA233381461
rs375295991
127 H>Y No ClinGen
gnomAD
TCGA novel 128 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760148993
CA6471508
129 M>I No ClinGen
ExAC
gnomAD
rs750129159
CA6471507
132 E>Q No ClinGen
ExAC
gnomAD
rs1456837081 132 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767112029
CA6471506
135 T>I No ClinGen
ExAC
CA6471504
rs775760120
136 R>G No ClinGen
ExAC
gnomAD
CA233381443
rs899962141
136 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1008245844
CA233381435
138 M>T No ClinGen
TOPMed
CA6471503
rs377250749
138 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 139 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs903290971
CA233381431
140 S>* No ClinGen
TOPMed
rs61742629
CA6471501
141 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs202034240
CA6471500
141 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA233381422
rs202034240
141 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs61742629
CA384075369
141 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6471498
rs778161829
144 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA384075204
rs1365103463
147 K>N No ClinGen
gnomAD
CA233381394
rs937264344
147 K>T No ClinGen
TOPMed
CA6471494
rs754728641
150 C>R No ClinGen
ExAC
gnomAD
CA6471493
rs753856477
150 C>Y No ClinGen
ExAC
gnomAD
rs1295735707
CA384075115
151 R>G No ClinGen
gnomAD
CA384075082
rs1351698623
152 K>R No ClinGen
gnomAD
CA6471491
rs779838173
155 Q>R No ClinGen
ExAC
gnomAD
rs1256344296
COSM937733
CA384074999
156 D>Y Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA233381384
rs370993260
158 T>I No ClinGen
ESP
TOPMed
gnomAD
CA6471489
rs200664557
159 H>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1313879966
CA384074883
159 H>R No ClinGen
Ensembl
CA6471488
rs200664557
159 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6471487
COSM1705241
rs767157264
160 P>L skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA384074822
rs1472394132
161 L>* No ClinGen
TOPMed
CA6471486
rs761395578
163 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA384074691
rs1414319019
166 I>V No ClinGen
TOPMed
CA233381366
rs907647673
168 S>A No ClinGen
TOPMed
CA6471485
rs751155763
169 S>P No ClinGen
ExAC
gnomAD
CA6471483
rs572061421
170 H>R No ClinGen
1000Genomes
ExAC
gnomAD
rs765699207
CA6471484
170 H>Y No ClinGen
ExAC
gnomAD
rs1264488269
CA384074584
172 T>I No ClinGen
gnomAD
CA6471481
rs77907218
174 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA233381345
rs866317202
176 S>F No ClinGen
Ensembl
CA233381342
rs1015780629
178 Q>K No ClinGen
gnomAD
CA384074498
rs1467841799
179 L>* No ClinGen
TOPMed
CA6471478
rs772266425
181 G>E No ClinGen
ExAC
gnomAD
CA233381319
rs748449465
182 P>S No ClinGen
ExAC
gnomAD
CA6471477
rs748449465
182 P>T No ClinGen
ExAC
gnomAD
CA6471475
rs768546809
183 S>C No ClinGen
ExAC
gnomAD
rs748990848
CA6471474
183 S>T No ClinGen
ExAC
gnomAD
TCGA novel 184 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs867642318
CA233381306
184 D>N No ClinGen
Ensembl
rs755975788
CA6471472
185 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6471473
rs755975788
185 L>I No ClinGen
ExAC
gnomAD
CA384074389
rs1334498268
187 G>E No ClinGen
gnomAD
rs1334498268
CA384074386
187 G>V No ClinGen
gnomAD
CA6471458
rs774660155
190 S>R No ClinGen
ExAC
gnomAD
rs1168670331
CA384074357
190 S>T No ClinGen
gnomAD
CA6471457
rs201726178
191 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 193 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775085774
CA6471455
194 K>T No ClinGen
ExAC
TOPMed
rs1329589888
CA384073342
195 G>V No ClinGen
gnomAD
rs745869429
CA6471453
197 R>C No ClinGen
ExAC
gnomAD
CA6471452
rs781075636
COSM1220993
197 R>H large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6471451
rs756807372
199 L>W No ClinGen
ExAC
gnomAD
CA6471450
rs746454182
201 I>T No ClinGen
ExAC
gnomAD
CA233378166
rs544364887
205 D>E No ClinGen
TOPMed
gnomAD
CA6471447
rs752381629
206 G>A No ClinGen
ExAC
gnomAD
COSM108213
CA233378162
rs143372033
206 G>R skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA6471446
rs376004144
207 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1321087968
CA384073042
208 Q>K No ClinGen
gnomAD
CA384073028
rs1290476185
208 Q>P No ClinGen
gnomAD
CA384072968
rs1248020562
210 E>D No ClinGen
gnomAD
CA384072978
rs1592211125
210 E>K No ClinGen
Ensembl
TCGA novel 211 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6471445
rs199690574
211 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs199690574
CA6471444
211 P>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1592211030
CA384072932
212 V>A No ClinGen
Ensembl
rs1465924779
CA384072830
218 T>I No ClinGen
TOPMed
TCGA novel 219 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6471443
rs768092099
220 T>A No ClinGen
ExAC
gnomAD
CA384072756
rs1374316725
222 K>N No ClinGen
gnomAD
rs769718898
CA6471442
223 L>F No ClinGen
ExAC
gnomAD
rs144902254
CA6471440
224 L>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 226 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1164807164
CA384072687
230 Q>* No ClinGen
TOPMed
gnomAD
rs1164807164
CA384072688
230 Q>E No ClinGen
TOPMed
gnomAD
rs570671609
CA6471439
232 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA6471436
rs200061726
233 H>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6471437
rs200061726
233 H>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA384072667
rs200061726
233 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775682338
CA6471438
233 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs776570767
CA6471435
235 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA6471434
rs770815446
236 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA6471433
COSM1686171
rs746532758
237 F>L skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA384072633
rs777207511
238 M>K No ClinGen
ExAC
gnomAD
CA6471432
rs777207511
238 M>T No ClinGen
ExAC
gnomAD
CA384071936
rs1486739703
239 T>I No ClinGen
gnomAD
rs1253952763
CA384071934
240 S>T No ClinGen
gnomAD
rs770746933
CA233374430
242 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA6471418
rs776341320
242 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6471416
rs760597828
243 P>T No ClinGen
ExAC
gnomAD
rs1473420795
CA384071884
244 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA384071846
rs1165570426
247 S>C No ClinGen
TOPMed
rs1565695718
CA384071840
248 L>S No ClinGen
Ensembl
CA6471414
rs771533355
248 L>V No ClinGen
ExAC
gnomAD
rs140991344
CA6471412
250 N>I No ClinGen
ESP
ExAC
gnomAD
CA6471413
rs747615409
250 N>Y No ClinGen
ExAC
gnomAD
CA233374413
rs147329540
254 T>A No ClinGen
ESP
CA384071769
rs1387605052
255 A>T No ClinGen
gnomAD
TCGA novel 258 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384071736
rs1321616568
259 V>I No ClinGen
TOPMed
rs1429553170
CA384071724
260 M>I No ClinGen
gnomAD
CA384071710
rs1178023070
262 D>E No ClinGen
gnomAD
rs1393886770
CA384071698
264 L>* No ClinGen
TOPMed
rs757632834
CA6471408
264 L>F No ClinGen
ExAC
gnomAD
rs1340485141
CA384071680
267 T>A No ClinGen
TOPMed
CA6471406
rs778318534
269 G>R No ClinGen
ExAC
gnomAD
CA233374374
rs898419315
270 E>D No ClinGen
Ensembl
CA233374370
rs1030169111
271 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs373717680
CA6471403
272 L>F No ClinGen
ESP
ExAC
gnomAD
rs148612256
CA6471404
272 L>S No ClinGen
ESP
ExAC
gnomAD
TCGA novel 272 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384071642
rs1205752745
273 L>F No ClinGen
gnomAD
CA6471400
rs766128890
275 D>E No ClinGen
ExAC
gnomAD
rs1277575553
CA384071631
275 D>H No ClinGen
gnomAD
CA233374351
rs879036629
275 D>V No ClinGen
gnomAD
rs997310439
CA384071626
276 M>L No ClinGen
TOPMed
gnomAD
rs1311113029
CA384071624
276 M>T No ClinGen
gnomAD
CA233374348
rs997310439
276 M>V No ClinGen
TOPMed
gnomAD
rs1228806714
CA384071617
277 L>V No ClinGen
TOPMed
rs1395780982
CA384071605
278 D>E No ClinGen
gnomAD
CA6471399
rs760497052
279 D>H No ClinGen
ExAC
gnomAD
CA233374346
rs760497052
COSM1511514
279 D>N lung Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1565695193
CA384071589
281 P>A No ClinGen
Ensembl
CA233374343
rs1038287524
281 P>L No ClinGen
Ensembl
CA384071578
rs1006753677
282 D>E No ClinGen
TOPMed
rs1338323073
CA384071581
282 D>G No ClinGen
gnomAD
rs773048335
CA6471398
283 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs773048335
CA233374338
283 T>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 285 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761416193
CA6471396
286 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA384071559
rs1443142009
286 S>L No ClinGen
TOPMed
CA6471395
rs773945669
287 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA233374327
rs773945669
287 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA384070759
rs1380833846
289 A>V No ClinGen
TOPMed
CA384070734
rs1389184857
292 F>C No ClinGen
TOPMed
rs1220949638
CA384070732
292 F>L No ClinGen
Ensembl
CA384070634
rs1443874418
299 K>N No ClinGen
gnomAD
rs1328849518
CA384070627
300 K>T No ClinGen
gnomAD
rs772413107
CA6471367
301 I>T No ClinGen
ExAC
gnomAD
rs1405545213
CA384070605
302 G>R No ClinGen
gnomAD
rs748693932
CA6471366
304 L>F No ClinGen
ExAC
gnomAD
TCGA novel 306 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384070520
rs1418844199
309 E>* No ClinGen
gnomAD
CA233372460
rs989844257
309 E>G No ClinGen
TOPMed
rs1418844199
CA384070522
309 E>K No ClinGen
gnomAD
CA384070505
rs1471244614
311 K>E No ClinGen
gnomAD
CA384070502
rs1311440754
311 K>R No ClinGen
TOPMed
rs756305954
CA384070497
COSM430849
312 G>A Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780146013
CA6471363
312 G>C No ClinGen
ExAC
gnomAD
rs756305954
CA384070496
312 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs780146013
CA6471362
312 G>R No ClinGen
ExAC
gnomAD
rs756305954
CA6471361
312 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs143949392
CA6471360
313 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 314 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 315 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751593977
CA6471356
COSM1360542
316 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6471355
rs200642156
316 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6471357
rs751593977
316 R>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762172750
CA6471319
318 D>G No ClinGen
ExAC
gnomAD
rs1025854076
CA233372232
319 N>S No ClinGen
TOPMed
rs763588296
CA6471316
320 Q>R No ClinGen
ExAC
gnomAD
rs1308051972
CA384069877
323 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs769962068
CA6471314
324 T>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6471312
rs528644759
COSM1299198
326 V>I Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777169092 326 V>K Variant assessed as Somatic; 9.242e-05 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 328 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 328 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771209382
CA6471310
330 P>S No ClinGen
ExAC
gnomAD
CA384069799
rs771209382
330 P>T No ClinGen
ExAC
gnomAD
CA233372214
rs559535019
331 G>R No ClinGen
1000Genomes
gnomAD
rs777770093
CA6471308
333 M>I No ClinGen
ExAC
gnomAD
CA6471309
rs746812257
333 M>T No ClinGen
ExAC
gnomAD
CA6471307
rs375022030
334 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6471306
rs200084345
336 K>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs574082799
CA6471305
336 K>T No ClinGen
1000Genomes
ExAC
rs200951053
CA6471304
338 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6471303
rs753277199
339 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA6471274
rs777273699
340 T>A No ClinGen
ExAC
gnomAD
TCGA novel 346 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760787755
CA6471272
346 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs201354911
COSM3811620
CA233371254
348 A>T Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
TCGA novel 348 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384069116
rs773598471
352 L>H No ClinGen
ExAC
gnomAD
rs773598471
CA6471271
352 L>P No ClinGen
ExAC
gnomAD
rs1025265193
CA233371242
355 Y>F No ClinGen
Ensembl
CA384069076
rs1401778994
356 T>A No ClinGen
TOPMed
gnomAD
rs146251347
CA6471270
COSM1262433
356 T>M oesophagus Variant assessed as Somatic; 4.632e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6471268
rs774069197
358 A>T No ClinGen
ExAC
gnomAD
CA384069028
rs1199724639
358 A>V No ClinGen
TOPMed
CA384069006
rs1368459023
361 F>C No ClinGen
gnomAD
rs768491279
CA6471267
361 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs749260837
CA6471266
362 K>E No ClinGen
ExAC
gnomAD
CA384068937
rs1201508237
366 H>Y No ClinGen
gnomAD
rs779940838
CA6471265
367 S>A No ClinGen
ExAC
gnomAD
rs1260852539
CA384068923
367 S>L No ClinGen
gnomAD
CA6471263
rs778265588
368 R>S No ClinGen
ExAC
gnomAD
CA384068912
rs1486341069
369 L>* No ClinGen
gnomAD
TCGA novel 371 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1201959941
CA384068869
374 N>K No ClinGen
gnomAD
CA233371211
rs942447862
375 E>* No ClinGen
Ensembl
TCGA novel 377 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756804721
CA6471260
378 S>F No ClinGen
ExAC
gnomAD
CA384068839
rs751212547
379 I>F No ClinGen
ExAC
gnomAD
rs201548309
CA6471258
379 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA6471259
rs751212547
379 I>V No ClinGen
ExAC
gnomAD
rs1295362346
CA384068831
380 G>E No ClinGen
gnomAD
CA233371187
rs867053530
381 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1240081555
CA384068814
383 Q>E No ClinGen
gnomAD
rs1334320857
CA384068804
384 A>D No ClinGen
gnomAD
rs1334320857
CA384068803
384 A>G No ClinGen
gnomAD
CA384068802
rs1334320857
384 A>V No ClinGen
gnomAD
rs755363982
CA6471257
385 R>* No ClinGen
ExAC
gnomAD
rs766953145
CA6471255
386 K>N No ClinGen
ExAC
gnomAD
TCGA novel 386 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6471252
rs750410796
390 L>S No ClinGen
ExAC
gnomAD
rs138740994
COSM1220991
CA6471249
391 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA233371147
rs868146904
391 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6471230
rs751748831
392 V>A No ClinGen
ExAC
gnomAD
CA233830850
rs866027680
394 E>K No ClinGen
Ensembl
CA384290923
rs1359777791
398 H>P No ClinGen
TOPMed
gnomAD
CA6471227
rs769302749
398 H>Q No ClinGen
ExAC
gnomAD
rs1486297807
CA384290916
399 T>N No ClinGen
TOPMed
CA233830848
rs964372593
400 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs199835667
CA6471226
400 R>K No ClinGen
ExAC
gnomAD
rs759461298
CA6471224
CA6471225
401 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA384290890
rs1475170703
403 I>T No ClinGen
TOPMed
CA384290876
rs1416442699
405 R>S No ClinGen
TOPMed
CA6471223
rs776602317
407 Y>H No ClinGen
ExAC
gnomAD
CA6471222
rs770397160
408 P>T No ClinGen
ExAC
gnomAD
CA6471220
rs546469440
409 K>R No ClinGen
ExAC
gnomAD
rs747788606
CA6471218
411 T>K No ClinGen
ExAC
gnomAD
CA6471219
rs147366281
411 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 415 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384290799
rs1468745851
CA384290798
417 N>K No ClinGen
TOPMed
gnomAD
CA6471217
rs530423672
422 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA384290749
rs1182616130
424 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA384290739
rs1310560334
425 N>S No ClinGen
TOPMed
CA6471216
rs756514047
426 I>T No ClinGen
ExAC
gnomAD
CA384290734
rs1484347751
426 I>V No ClinGen
TOPMed
gnomAD
CA6471215
rs374938372
427 G>A No ClinGen
ESP
ExAC
gnomAD
CA6471214
rs374938372
427 G>D No ClinGen
ESP
ExAC
gnomAD
rs1415352852
CA384290720
428 C>F No ClinGen
TOPMed
TCGA novel 430 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201166300
CA6471212
431 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6471188
rs765395210
432 A>G No ClinGen
ExAC
gnomAD
rs1470610454
CA384290684
432 A>P No ClinGen
gnomAD
rs754761342
CA6471187
434 N>D No ClinGen
ExAC
gnomAD
CA384290645
rs367728469
437 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367728469
CA384290646
437 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6471186
rs367728469
437 T>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs903069813
CA233830716
438 P>L No ClinGen
gnomAD
rs1190136164
CA384290636
439 G>D No ClinGen
gnomAD
CA233830715
rs769119861
442 M>T No ClinGen
TOPMed
gnomAD
rs1423779663
CA384290621
442 M>V No ClinGen
TOPMed
CA233830714
COSM1705239
rs868835001
443 D>N skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs868835001
CA384290613
443 D>Y No ClinGen
gnomAD
TCGA novel 446 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6471183
rs773252235
447 G>A No ClinGen
ExAC
gnomAD
rs760730677
CA6471184
447 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 448 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767182202
CA6471182
449 F>V No ClinGen
ExAC
gnomAD
CA6471180
rs774174183
451 D>G No ClinGen
ExAC
gnomAD
CA6471179
rs749562548
453 G>D No ClinGen
ExAC
gnomAD
CA233830713
rs749562548
453 G>V No ClinGen
ExAC
gnomAD
TCGA novel 454 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1360900704
CA384290538
454 G>D No ClinGen
gnomAD
rs777116401
CA6471177
455 S>P No ClinGen
ExAC
gnomAD
CA384290527
rs1336040146
456 G>A No ClinGen
TOPMed
rs771198317
CA6471176
457 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 457 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA233830712
rs200740057
459 L>F No ClinGen
Ensembl
rs778233451
CA6471174
460 K>E No ClinGen
ExAC
gnomAD
CA384290492
rs1183756784
461 P>L No ClinGen
gnomAD
rs1242127347
CA384290497
461 P>T No ClinGen
gnomAD
rs1055494413
CA233830711
462 H>R No ClinGen
Ensembl
rs955258605
CA233830710
463 F>L No ClinGen
TOPMed
TCGA novel 466 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384290462
rs1285002950
466 E>Q No ClinGen
gnomAD
rs1214259553
CA384290454
467 S>G No ClinGen
gnomAD
CA6471173
rs201761082
469 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1449191020
CA384290439
469 S>P No ClinGen
TOPMed
rs573941980
CA233830709
470 Y>* No ClinGen
1000Genomes
rs563553688
CA6471171
471 F>C No ClinGen
1000Genomes
ExAC
gnomAD
CA6471167
rs755839748
474 S>G No ClinGen
ExAC
gnomAD
rs1032753329
CA233830708
474 S>N No ClinGen
TOPMed
rs1000392258
CA233830707
476 I>V No ClinGen
TOPMed
rs1198474672
CA384290370
479 G>S No ClinGen
TOPMed
rs1239113491
CA384290359
480 M>I No ClinGen
TOPMed
CA6471166
rs578005805
480 M>R No ClinGen
1000Genomes
ExAC
gnomAD
CA384290356
rs1458820872
481 P>T No ClinGen
TOPMed
CA384290342
rs1229065080
483 T>A No ClinGen
TOPMed
gnomAD
rs1296499986
CA384290335
484 L>F No ClinGen
gnomAD
rs761409846
CA6471164
487 R>G No ClinGen
ExAC
gnomAD
CA6471163
rs751060116
487 R>K No ClinGen
ExAC
gnomAD
rs757326350
CA6471145
489 I>V No ClinGen
ExAC
gnomAD
CA233829940
rs998637111
490 S>N No ClinGen
TOPMed
gnomAD
CA6471143
rs375785880
491 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1270037124
CA384290266
493 Q>H No ClinGen
gnomAD
rs1565653072
CA384290269
493 Q>R No ClinGen
Ensembl
CA6471141
rs752418470
494 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA6471139
rs761033704
495 P>L No ClinGen
ExAC
gnomAD
rs761033704
CA384290255
495 P>R No ClinGen
ExAC
gnomAD
CA6471140
rs764757392
495 P>S No ClinGen
ExAC
rs773624229
CA6471138
496 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1388903092
CA384290252
496 L>P No ClinGen
gnomAD
CA233829939
rs773624229
496 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA384290249
rs1360232726
497 T>A No ClinGen
gnomAD
CA6471137
rs375699309
498 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762346443
CA6471136
499 S>* No ClinGen
ExAC
gnomAD
rs10505830
CA6471135
VAR_050542
500 S>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1469286902
CA384290221
502 N>D No ClinGen
gnomAD
CA384290211
rs1378119644
503 K>E No ClinGen
gnomAD
rs1426519546
CA384290202
504 G>D No ClinGen
gnomAD
rs1418319077
CA384290203
504 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs749285005
CA6471133
505 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1186165869
CA384290188
506 S>* No ClinGen
gnomAD
CA6471131
rs746077652
510 I>R No ClinGen
ExAC
gnomAD
rs746077652
CA6471130
510 I>T No ClinGen
ExAC
gnomAD
rs372739448
CA6471132
510 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 511 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781203685
CA6471129
511 E>Q No ClinGen
ExAC
gnomAD
rs1362849229
CA384290148
513 F>L No ClinGen
gnomAD
rs143705661
CA233829937
514 G>D No ClinGen
ESP
TOPMed
gnomAD
CA233829936
rs143705661
514 G>V No ClinGen
ESP
TOPMed
gnomAD
rs747019678
CA6471127
516 P>L No ClinGen
ExAC
gnomAD
rs757089938
CA6471128
516 P>S No ClinGen
ExAC
gnomAD
CA233829935
rs762517624
517 N>D No ClinGen
gnomAD
rs1295277613
CA384290122
517 N>K No ClinGen
TOPMed
gnomAD
CA384290118
rs1287617910
518 D>H No ClinGen
TOPMed
CA384290100
rs1159433807
520 M>T No ClinGen
TOPMed
gnomAD
CA6471126
rs777524015
521 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs774791716
CA233829933
524 T>A No ClinGen
Ensembl
CA6471123
rs764883389
COSM937727
525 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764883389
CA6471124
525 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs754691461
CA6471122
525 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs754691461
CA384290065
525 R>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 526 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753457750
CA6471121
526 V>I No ClinGen
ExAC
gnomAD
rs556354031
CA6471120
527 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA6471119
rs762115617
530 N>H No ClinGen
ExAC
gnomAD
CA233829931
rs982833347
530 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs753282259
CA6471075
531 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA384289998
rs1190644019
534 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1168406425
CA384289975
537 N>S No ClinGen
TOPMed
gnomAD
rs551867055
CA233829510
543 I>L No ClinGen
1000Genomes
CA233829509
rs921193342
544 I>S No ClinGen
Ensembl
rs765803035
CA6471074
545 H>L No ClinGen
ExAC
gnomAD
CA384289916
rs1371898909
545 H>Q No ClinGen
TOPMed
rs1320728575
CA384289901
COSM1360540
548 E>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA6471072
rs753912831
550 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs753912831
CA384289887
550 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA384289884
rs1346886433
550 A>V No ClinGen
gnomAD
rs766470697
CA384289883
551 L>M No ClinGen
ExAC
gnomAD
rs760846175
CA384289875
552 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA384289871
rs1268205021
552 I>M No ClinGen
TOPMed
rs760846175
CA6471070
552 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA384289868
rs1424048703
553 R>C No ClinGen
TOPMed
gnomAD
CA6471069
rs773460175
553 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs764575794
CA6471068
557 E>A No ClinGen
ExAC
gnomAD
rs764575794
CA233829508
557 E>V No ClinGen
ExAC
gnomAD
CA6471067
rs761628985
COSM1732492
558 G>S Variant assessed as Somatic; 0.0 impact. bone [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA384289833
rs1334112989
559 Q>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1334112989
CA384289834
559 Q>K No ClinGen
TOPMed
gnomAD
rs980750992
CA233829507
560 G>S No ClinGen
TOPMed
gnomAD
CA6471066
rs774273679
560 G>V No ClinGen
ExAC
gnomAD
TCGA novel 561 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768519319
CA6471064
562 I>T No ClinGen
ExAC
gnomAD
rs749207835
CA384289808
563 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs749207835
CA6471063
563 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA6471062
rs779603156
565 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1440335704
CA384289763
570 Q>K No ClinGen
gnomAD
CA233829506
rs1024791243
570 Q>R No ClinGen
TOPMed
CA384289737
rs1444032727
573 L>F No ClinGen
gnomAD
rs769319345
CA6471061
573 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA384289734
rs1270699975
574 P>S No ClinGen
TOPMed
gnomAD
rs745559226
CA6471060
575 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs267603406
COSM1705236
CA233829505
578 M>I skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs758723831
CA6471058
578 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs758723831
CA384289710
578 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs780852544
CA6471059
578 M>V No ClinGen
ExAC
gnomAD
CA384289703
rs1200690947
579 N>T No ClinGen
gnomAD
rs753044914
CA6471057
580 K>N No ClinGen
ExAC
gnomAD
rs1377138386
CA384289694
580 K>R No ClinGen
TOPMed
gnomAD
rs1449492009
CA384289689
581 G>C No ClinGen
gnomAD
rs371997935
COSM937724
CA6471026
583 R>C Variant assessed as Somatic; 0.0 impact. NS endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758982697
CA6471025
583 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6471024
rs776263166
COSM23086
584 R>C lung large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs770563339
COSM1360537
CA6471023
584 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs918476999
CA233829422
585 I>T No ClinGen
TOPMed
CA384289616
rs1319402442
591 M>I No ClinGen
TOPMed
gnomAD
rs772949794
CA384289617
591 M>R No ClinGen
ExAC
gnomAD
CA6471020
rs772949794
591 M>T No ClinGen
ExAC
gnomAD
rs1220668097
CA384289620
591 M>V No ClinGen
gnomAD
rs749597291
CA6471018
592 G>A No ClinGen
ExAC
gnomAD
CA6471019
rs769172901
592 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA384289608
rs1438749227
593 E>Q No ClinGen
gnomAD
rs1301038364
CA384289596
594 S>I No ClinGen
gnomAD
rs1235794078
CA384289595
594 S>R No ClinGen
gnomAD
CA384289591
rs1465464584
595 L>F No ClinGen
gnomAD
TCGA novel 596 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384289578
rs780438880
597 P>A No ClinGen
ExAC
gnomAD
rs780438880
CA6471017
597 P>T No ClinGen
ExAC
gnomAD
CA6471016
rs756699022
600 L>P No ClinGen
ExAC
gnomAD
rs746351999
CA6471015
601 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs368073546
CA6471014
602 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA233829418
rs955097824
604 V>I No ClinGen
TOPMed
gnomAD
CA384289537
rs955097824
604 V>L No ClinGen
TOPMed
gnomAD
CA384289517
rs375530262
606 Y>* No ClinGen
ESP
ExAC
gnomAD
CA6471012
rs751805291
607 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA384289510
rs1257019153
608 R>G No ClinGen
gnomAD
CA384289507
rs1565641278
608 R>T No ClinGen
Ensembl

1 associated diseases with Q86YW0

[MIM: 617214]: Spermatogenic failure 17 (SPGF17)

An autosomal recessive infertility disorder due to failure of oocyte activation and fertilization by sperm that otherwise exhibits normal morphology. {ECO:0000269|PubMed:26721930}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal recessive infertility disorder due to failure of oocyte activation and fertilization by sperm that otherwise exhibits normal morphology. {ECO:0000269|PubMed:26721930}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q86YW0

Type Name Position InterPro Accession
domain C2 domain 465 - 589 IPR000008
domain Phosphatidylinositol-specific phospholipase C, X domain 155 - 300 IPR000909
domain Phospholipase C, phosphatidylinositol-specific, Y domain 349 - 465 IPR001711
domain EF-hand domain 35 - 70 IPR002048
domain Phosphoinositide-specific phospholipase C, EF-hand-like domain 64 - 147 IPR015359

Functions

Description
EC Number 3.1.4.11 Phosphoric diester hydrolases
Subcellular Localization
  • Nucleus
  • Cytoplasm, perinuclear region
  • Exhibits alternative cytoplasmic/nuclear localization during development
  • Translocates from the pronucleus into cytoplasm upon nuclear envelope breakdown for mitosis and localizes again to the pronucleus at interphase following meiosis and mitosis (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 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.
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.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
pronucleus The nucleus of either the ovum or the spermatozoon following fertilization. Thus, in the fertilized ovum, there are two pronuclei, one originating from the ovum, the other from the spermatozoon that brought about fertilization; they approach each other, but do not fuse until just before the first cleavage, when each pronucleus loses its membrane to release its contents.
sperm head The part of the late spermatid or spermatozoon that contains the nucleus and acrosome.

5 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).
phosphatidylinositol phospholipase C activity Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+).
phosphatidylinositol-3-phosphate binding Binding to phosphatidylinositol-3-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' position.
phosphatidylinositol-4,5-bisphosphate binding Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
phosphatidylinositol-5-phosphate binding Binding to phosphatidylinositol-5-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 5' position.

6 GO annotations of biological process

Name Definition
calcium ion transport The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
egg activation The process in which the egg becomes metabolically active, initiates protein and DNA synthesis and undergoes structural changes to its cortex and/or cytoplasm.
lipid catabolic process The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.
phosphatidylinositol-mediated signaling The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
positive regulation of cytosolic calcium ion concentration Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of cytosolic calcium ion concentration involved in egg activation The process that increases the concentration of calcium ions in the cytosol after fertilization or the physiological activation of an egg.

31 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P32383 PLC1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
P10895 PLCD1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 Bos taurus (Bovine) SS
Q1RML2 PLCZ1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 Bos taurus (Bovine) PR
Q2VRL0 PLCZ1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 Gallus gallus (Chicken) PR
Q15111 PLCL1 Inactive phospholipase C-like protein 1 Homo sapiens (Human) PR
Q9UPR0 PLCL2 Inactive phospholipase C-like protein 2 Homo sapiens (Human) PR
Q8N3E9 PLCD3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 Homo sapiens (Human) SS
Q9BRC7 PLCD4 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 Homo sapiens (Human) SS
P16885 PLCG2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 Homo sapiens (Human) SS
P19174 PLCG1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 Homo sapiens (Human) EV
Q00722 PLCB2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 Homo sapiens (Human) EV
Q01970 PLCB3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 Homo sapiens (Human) EV
Q9NQ66 PLCB1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 Homo sapiens (Human) EV
Q9P212 PLCE1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 Homo sapiens (Human) SS
P51178 PLCD1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 Homo sapiens (Human) EV
Q15147 PLCB4 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 Homo sapiens (Human) PR
Q8R3B1 Plcd1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 Mus musculus (Mouse) SS
Q8K394 Plcl2 Inactive phospholipase C-like protein 2 Mus musculus (Mouse) PR
Q8K2J0 Plcd3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 Mus musculus (Mouse) PR
Q8K4S1 Plce1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 Mus musculus (Mouse) SS
Q7YRU3 PLCZ 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 Sus scrofa (Pig) PR
P10688 Plcd1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 Rattus norvegicus (Rat) SS
Q99P84 Plce1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 Rattus norvegicus (Rat) EV
Q8GV43 PLC6 Phosphoinositide phospholipase C 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q944C2 PLC5 Phosphoinositide phospholipase C 5 Arabidopsis thaliana (Mouse-ear cress) PR
Q6NMA7 PLC9 Phosphoinositide phospholipase C 9 Arabidopsis thaliana (Mouse-ear cress) PR
Q9STZ3 PLC8 Phosphoinositide phospholipase C 8 Arabidopsis thaliana (Mouse-ear cress) PR
Q56W08 PLC3 Phosphoinositide phospholipase C 3 Arabidopsis thaliana (Mouse-ear cress) PR
Q39032 PLC1 Phosphoinositide phospholipase C 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q944C1 PLC4 Phosphoinositide phospholipase C 4 Arabidopsis thaliana (Mouse-ear cress) PR
A5D6R3 plcd3a 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3-A Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MEMRWFLSKI QDDFRGGKIN LEKTQRLLEK LDIRCSYIHV KQIFKDNDRL KQGRITIEEF
70 80 90 100 110 120
RAIYRIITHR EEIIEIFNTY SENRKILLAS NLAQFLTQEQ YAAEMSKAIA FEIIQKYEPI
130 140 150 160 170 180
EEVRKAHQMS LEGFTRYMDS RECLLFKNEC RKVYQDMTHP LNDYFISSSH NTYLVSDQLL
190 200 210 220 230 240
GPSDLWGYVS ALVKGCRCLE IDCWDGAQNE PVVYHGYTLT SKLLFKTVIQ AIHKYAFMTS
250 260 270 280 290 300
DYPVVLSLEN HCSTAQQEVM ADNLQATFGE SLLSDMLDDF PDTLPSPEAL KFKILVKNKK
310 320 330 340 350 360
IGTLKETHER KGSDKRGDNQ DKETGVKKLP GVMLFKKKKT RKLKIALALS DLVIYTKAEK
370 380 390 400 410 420
FKSFQHSRLY QQFNENNSIG ETQARKLSKL RVHEFIFHTR KFITRIYPKA TRADSSNFNP
430 440 450 460 470 480
QEFWNIGCQM VALNFQTPGL PMDLQNGKFL DNGGSGYILK PHFLRESKSY FNPSNIKEGM
490 500 510 520 530 540
PITLTIRLIS GIQLPLTHSS SNKGDSLVII EVFGVPNDQM KQQTRVIKKN AFSPRWNETF
550 560 570 580 590 600
TFIIHVPELA LIRFVVEGQG LIAGNEFLGQ YTLPLLCMNK GYRRIPLFSR MGESLEPASL
FVYVWYVR