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 O95757

Entry ID Method Resolution Chain Position Source
AF-O95757-F1 Predicted AlphaFoldDB

590 variants for O95757

Variant ID(s) Position Change Description Diseaes Association Provenance
CA358155684
rs1578682078
2 S>A No ClinGen
Ensembl
rs201576051
CA105643617
4 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA3075744
rs771638549
4 V>G No ClinGen
ExAC
gnomAD
rs201576051
CA3075743
4 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 4 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs896050243
CA105643626
6 I>L No ClinGen
TOPMed
CA3075746
rs760673361
6 I>T No ClinGen
ExAC
gnomAD
rs1403329764
CA358155742
7 D>A No ClinGen
gnomAD
rs764023314
CA3075747
7 D>N No ClinGen
ExAC
gnomAD
rs199667750
CA3075748
8 L>F No ClinGen
ExAC
gnomAD
rs750545102
CA3075751
12 N>S No ClinGen
ExAC
gnomAD
TCGA novel 14 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA105643658
rs967916391
14 Y>H No ClinGen
TOPMed
CA105643659
rs977955245
15 I>S No ClinGen
TOPMed
gnomAD
rs1348626241
CA358155861
16 A>S No ClinGen
gnomAD
TCGA novel 16 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780095848
CA3075753
20 S>I No ClinGen
ExAC
gnomAD
rs1258381037
CA358155913
22 G>S No ClinGen
TOPMed
CA3075756
rs781457985
24 E>Q No ClinGen
ExAC
gnomAD
rs1183784646
CA358155948
27 A>S No ClinGen
gnomAD
CA3075759
rs149145774
28 N>S No ClinGen
ESP
ExAC
gnomAD
rs1578682230
CA358155969
30 Y>D No ClinGen
Ensembl
rs546264952
CA3075760
32 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA358155999
rs1578682250
34 C>G No ClinGen
Ensembl
rs771763337
CA3075761
35 T>I No ClinGen
ExAC
gnomAD
CA3075763
rs760746770
36 P>L No ClinGen
ExAC
gnomAD
CA3075791
COSM1426963
rs766607334
37 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA3075793
rs557197519
39 I>V No ClinGen
1000Genomes
ExAC
TCGA novel 40 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759617179
CA3075794
41 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA358159110
rs1485687619
42 G>E No ClinGen
gnomAD
CA358159106
rs1240714254
42 G>R No ClinGen
gnomAD
rs151278136
CA3075796
43 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140639721
CA105654260
46 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs140639721
CA358159154
46 R>G No ClinGen
TOPMed
gnomAD
rs1560652789
CA358159164
47 A>T No ClinGen
Ensembl
rs764571361
CA3075798
47 A>V No ClinGen
ExAC
gnomAD
CA358159182
rs1400227698
48 I>T No ClinGen
TOPMed
rs754279302
CA3075799
49 G>V No ClinGen
ExAC
gnomAD
rs548977961
CA105654281
54 S>G No ClinGen
TOPMed
gnomAD
rs1009738980
CA105654299
54 S>N No ClinGen
TOPMed
rs1578692570
CA358159269
54 S>R No ClinGen
Ensembl
rs746605957
CA358159277
55 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA3075802
rs746605957
55 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA358159418
rs200226261
58 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA3075821
rs200226261
58 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1306083724
CA358159425
59 N>Y No ClinGen
gnomAD
rs750906753
CA3075825
60 V>A No ClinGen
ExAC
gnomAD
CA3075824
rs367736477
60 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs867936873
CA105655285
61 R>I No ClinGen
TOPMed
gnomAD
CA3075826
rs749165073
63 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs911638580
CA105655304
64 I>V No ClinGen
TOPMed
TCGA novel 67 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3075827
rs770770339
68 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA3075828
rs778673195
70 L>P No ClinGen
ExAC
gnomAD
CA3075829
rs746140197
71 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs772207913
CA3075830
73 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs775742078
CA3075831
74 S>L No ClinGen
ExAC
gnomAD
TCGA novel 75 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1453470880
CA358159660
77 D>H No ClinGen
TOPMed
gnomAD
rs1453470880
CA358159662
77 D>Y No ClinGen
TOPMed
gnomAD
CA3075833
rs768798898
78 P>R No ClinGen
ExAC
gnomAD
rs760675719
CA3075832
78 P>S No ClinGen
ExAC
gnomAD
CA3075835
rs762409065
79 I>T No ClinGen
ExAC
gnomAD
rs758942751
CA3075834
79 I>V No ClinGen
ExAC
gnomAD
CA3075836
rs200089402
80 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA105655341
rs200089402
80 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs750734128
CA3075837
84 R>K No ClinGen
ExAC
gnomAD
CA105655369
rs375802667
84 R>S No ClinGen
ESP
TOPMed
gnomAD
rs369705910
CA105655372
85 I>F No ClinGen
ESP
TOPMed
rs1233880375
CA358160586
86 R>S No ClinGen
gnomAD
CA3075838
rs138445498
88 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3075839
rs767103769
89 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA358160625
rs767103769
89 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA3075840
rs752324370
90 E>K No ClinGen
ExAC
gnomAD
CA3075841
rs755630197
94 M>T No ClinGen
ExAC
gnomAD
TCGA novel 95 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201383324
CA3075843
96 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201383324
CA3075842
96 N>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1250932415
CA358160777
97 G>E No ClinGen
gnomAD
rs1192057515
CA358160792
98 S>R No ClinGen
TOPMed
rs757154644
CA3075844
98 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1440741976
CA358160816
100 G>V No ClinGen
Ensembl
CA358161034
rs763228055
103 V>L No ClinGen
ExAC
gnomAD
CA3075855
rs763228055
103 V>M No ClinGen
ExAC
gnomAD
rs141410924
CA358161056
104 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141410924
CA3075857
104 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766704348
CA3075856
COSM1051092
104 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA358161177
rs1464053553
110 R>I No ClinGen
TOPMed
rs763632056
CA3075859
111 P>H No ClinGen
ExAC
gnomAD
CA3075858
rs760314573
111 P>S No ClinGen
ExAC
gnomAD
CA358161250
rs1217891017
114 I>T No ClinGen
TOPMed
rs373239716
CA3075860
114 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs546435846
CA3075862
117 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA3075863
rs750318109
120 M>L No ClinGen
ExAC
gnomAD
CA358161387
rs1289019491
122 L>* No ClinGen
TOPMed
rs758185945
CA3075864
125 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs758185945
CA358161443
125 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs747238990
CA3075866
126 K>E No ClinGen
ExAC
gnomAD
CA105657344
rs747238990
126 K>Q No ClinGen
ExAC
gnomAD
rs1384706093
CA358161466
126 K>R No ClinGen
TOPMed
CA358161500
rs1278814355
128 T>A No ClinGen
gnomAD
CA3075867
rs755232760
131 N>H No ClinGen
ExAC
gnomAD
CA358161590
rs1208185374
133 L>V No ClinGen
TOPMed
gnomAD
rs953381903
CA105657370
136 P>S No ClinGen
Ensembl
CA358161670
rs1475195071
137 V>G No ClinGen
gnomAD
CA358161659
rs1434557859
137 V>M No ClinGen
TOPMed
rs748267500
CA3075869
138 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs769924862
CA3075870
139 D>N No ClinGen
ExAC
gnomAD
rs773602818
CA3075871
140 C>S No ClinGen
ExAC
gnomAD
CA358161716
rs773602818
140 C>Y No ClinGen
ExAC
gnomAD
rs1290671910
CA358161758
142 I>T No ClinGen
TOPMed
rs749799211
CA3075891
144 I>T No ClinGen
ExAC
gnomAD
rs1560656541
CA358163086
146 S>N No ClinGen
Ensembl
CA3075893
rs376897442
147 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 148 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752931412 149 T>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs979128539
CA105659177
151 A>G No ClinGen
TOPMed
CA3075895
rs746237001
152 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA358163284
rs1164926797
161 Q>R No ClinGen
TOPMed
rs1429329809
CA358163303
162 V>A No ClinGen
gnomAD
rs145179103
CA3075898
162 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769231787
CA3075899
163 A>V No ClinGen
ExAC
gnomAD
CA105659211
rs573754238
168 L>S No ClinGen
gnomAD
CA105659217
rs987130637
173 E>G No ClinGen
TOPMed
CA358163464
rs1165511632
174 T>I No ClinGen
gnomAD
TCGA novel 174 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3075901
rs762324471
175 T>A No ClinGen
ExAC
gnomAD
CA358163477
rs1438367772
176 A>P No ClinGen
gnomAD
CA358163561
rs1357962935
178 A>T No ClinGen
gnomAD
rs1231978187
CA358163577
179 L>P No ClinGen
gnomAD
rs137878800
COSM1051094
CA3075917
180 A>V endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772703436
CA3075919
185 K>N No ClinGen
ExAC
gnomAD
rs762526040
CA3075921
186 Q>H No ClinGen
ExAC
gnomAD
rs1017636201
CA105659684
187 D>H No ClinGen
TOPMed
gnomAD
CA358163719
rs1440994204
190 P>S No ClinGen
TOPMed
CA358163747
rs774483616
192 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA3075923
rs774483616
192 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs759538186
CA358163769
193 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA358163780
rs1280522032
194 K>I No ClinGen
TOPMed
rs373388701
CA3075926
195 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373388701
CA358163783
195 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760336391
CA3075927
198 V>L No ClinGen
ExAC
gnomAD
CA358163820
rs1164898333
199 V>I No ClinGen
gnomAD
rs1242416346
CA358163846
200 F>L No ClinGen
TOPMed
rs1307344785
CA358163836
200 F>V No ClinGen
TOPMed
CA358163858
rs1373050040
201 I>T No ClinGen
gnomAD
TCGA novel 202 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753949597
CA3075929
203 M>K No ClinGen
ExAC
gnomAD
CA358163892
rs1413507878
203 M>V No ClinGen
TOPMed
gnomAD
CA3075930
rs377487611
204 G>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358163948
rs1225891104
205 H>Q No ClinGen
gnomAD
CA3075931
rs778959411
209 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA358164045
rs1342748009
210 V>A No ClinGen
TOPMed
CA358164059
rs1380154
211 L>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_025405
CA3075932
rs1380154
211 L>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA358164056
rs1380154
211 L>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA358164076
rs1359576627
212 V>F No ClinGen
TOPMed
CA3075934
rs143921953
213 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768839319
CA358164110
214 A>D No ClinGen
ExAC
gnomAD
rs747434514
CA3075935
214 A>T No ClinGen
ExAC
gnomAD
CA3075936
rs768839319
214 A>V No ClinGen
ExAC
gnomAD
rs12507229
CA105659838
VAR_031214
216 N>T No ClinGen
UniProt
Ensembl
dbSNP
CA358164262
rs1410891120
221 K>* No ClinGen
gnomAD
TCGA novel 222 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751956032
CA3075954
223 L>F No ClinGen
ExAC
gnomAD
CA358164441
rs1560658266
223 L>S No ClinGen
Ensembl
rs755425689
CA3075955
224 A>S No ClinGen
ExAC
gnomAD
CA3075956
rs781402610
225 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs749006020
CA3075957
225 T>N No ClinGen
ExAC
gnomAD
CA358164529
rs1560658296
230 Y>C No ClinGen
Ensembl
CA358164547
rs1412160504
232 G>D No ClinGen
gnomAD
rs756947318
CA3075958
233 G>S No ClinGen
ExAC
gnomAD
rs1276774511
CA358164582
237 D>E No ClinGen
gnomAD
CA3075959
rs778660091
239 A>T No ClinGen
ExAC
gnomAD
CA3075960
rs745401153
240 L>S No ClinGen
ExAC
gnomAD
rs533202744
CA105661282
241 V>I No ClinGen
gnomAD
CA358164610
rs1204042264
242 D>N No ClinGen
TOPMed
rs1364125644
CA358164622
243 Y>* No ClinGen
gnomAD
rs771640552
CA3075961
243 Y>D No ClinGen
ExAC
TOPMed
gnomAD
CA358164628
rs1262447024
244 F>L No ClinGen
TOPMed
rs775557806
CA3075962
244 F>L No ClinGen
ExAC
gnomAD
rs775557806
CA358164624
244 F>V No ClinGen
ExAC
gnomAD
rs540609129
CA105661318
246 D>E No ClinGen
TOPMed
CA105661320
rs903030488
250 T>I No ClinGen
TOPMed
gnomAD
rs1234900117
CA358164686
252 Y>C No ClinGen
TOPMed
rs566560877
CA3075966
253 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358164713
rs1243347581
256 V>L No ClinGen
gnomAD
rs773358656
CA105661357
261 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs773358656
CA3075969
261 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1185415139
COSM1051098
CA358164749
261 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1167608799
CA358164754
262 A>D No ClinGen
gnomAD
rs1475800215
CA358164751
262 A>S No ClinGen
gnomAD
rs1167608799
CA358164756
262 A>V No ClinGen
gnomAD
rs148220546
CA358164762
CA3075970
263 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358164767
rs1560658438
264 L>S No ClinGen
Ensembl
rs766430856
CA3075971
265 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs766430856
CA358164771
265 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs199907912
CA3075972
265 R>H Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358164788
rs1428792883
267 Y>* No ClinGen
gnomAD
rs1277641825
CA358164798
269 E>* No ClinGen
gnomAD
rs767970363
CA3075974
269 E>V No ClinGen
ExAC
gnomAD
CA3075976
rs756505685
271 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs745458742
CA3075979
273 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs745458742
CA3075978
273 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA358164844
rs1426252439
275 K>N No ClinGen
TOPMed
CA358164857
rs1444916011
277 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs577001640
CA3075981
278 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs200996353
CA3075982
279 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 281 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 282 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3075983
rs781146948
284 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs773485249
CA3075986
288 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1023302493
CA105661447
288 I>T No ClinGen
Ensembl
CA105661426
rs1012776673
288 I>V No ClinGen
TOPMed
rs1410525040
CA358164983
292 M>L No ClinGen
gnomAD
rs1410525040
CA358164980
292 M>V No ClinGen
gnomAD
rs368033409
CA3075988
293 N>D No ClinGen
ESP
ExAC
gnomAD
CA358165005
rs1578701738
293 N>K No ClinGen
Ensembl
rs142776246
CA105661459
295 L>F No ClinGen
ESP
TOPMed
gnomAD
CA358165043
rs1296462414
296 D>Y No ClinGen
TOPMed
rs1416549103
CA358165067
297 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3075990
rs759610355
COSM3825165
298 S>F Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA3075991
rs767939806
299 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs753180971
CA3075992
300 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs761133648
CA3075993
301 M>V No ClinGen
ExAC
gnomAD
rs1348155983
CA358165145
302 N>S No ClinGen
gnomAD
CA3076010
rs761233683
304 A>T No ClinGen
ExAC
gnomAD
TCGA novel 307 E>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1196907428
CA358165548
308 Q>E No ClinGen
gnomAD
rs754279391
CA3076012
309 L>Q No ClinGen
ExAC
gnomAD
CA3076013
rs762199020
310 C>G No ClinGen
ExAC
gnomAD
CA3076014
rs35793506
311 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1464963099
CA358165651
316 R>G No ClinGen
gnomAD
rs751167740
CA3076016
323 A>G No ClinGen
ExAC
gnomAD
rs751167740
CA3076015
323 A>V No ClinGen
ExAC
gnomAD
CA358165860
rs1372777103
325 M>T No ClinGen
TOPMed
gnomAD
rs1392765211
CA358165854
325 M>V No ClinGen
TOPMed
CA3076017
rs780752508
328 A>G No ClinGen
ExAC
gnomAD
CA3076018
rs752668216
329 N>D No ClinGen
ExAC
gnomAD
rs765625630
CA3076034
329 N>K No ClinGen
ExAC
gnomAD
CA358166084
rs1396346902
331 Q>K No ClinGen
gnomAD
CA358166094
rs1456094851
COSM302398
332 R>C central_nervous_system [Cosmic] No ClinGen
cosmic curated
gnomAD
CA3076036
rs558328437
332 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA358166096
rs558328437
332 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767059002
CA3076037
335 I>S No ClinGen
ExAC
gnomAD
TCGA novel 336 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752222945
CA358166130
337 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs752222945
CA3076038
337 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs139697778
CA105662646
338 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
rs1218506601
CA358166135
338 I>V No ClinGen
gnomAD
TCGA novel 340 I>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1416570610
CA358166154
340 I>M No ClinGen
gnomAD
rs1250116113
CA358166149
340 I>V No ClinGen
TOPMed
rs990066517
CA105662651
345 T>A No ClinGen
TOPMed
COSM1471741
rs1275517334
CA358166185
346 R>* Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs755578805
COSM203676
CA3076039
346 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373983165
CA3076040
348 P>L No ClinGen
ESP
ExAC
gnomAD
rs753715012
CA3076041
349 A>T No ClinGen
ExAC
gnomAD
rs1265143890
CA358166202
349 A>V No ClinGen
gnomAD
rs1578703057
CA358166241
354 I>M No ClinGen
Ensembl
CA3076042
rs757058289
355 T>I No ClinGen
ExAC
gnomAD
CA3076043
rs778764097
356 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs746127288
CA358166260
CA3076044
COSM1051099
357 F>L Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
NCI-TCGA
CA358166267
rs1277064947
358 F>L No ClinGen
TOPMed
TCGA novel 361 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3076046
rs780385437
362 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA358166292
rs780385437
362 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs747092142
CA3076047
364 T>I No ClinGen
ExAC
gnomAD
CA358166327
rs1364057105
367 N>S No ClinGen
TOPMed
gnomAD
rs777338709
CA3076049
368 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA358166341
rs1430078970
369 D>V No ClinGen
gnomAD
CA3076052
rs773601241
370 E>D No ClinGen
ExAC
gnomAD
CA3076051
rs770100358
370 E>K No ClinGen
ExAC
gnomAD
TCGA novel 371 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358166357
rs1313962437
372 V>L No ClinGen
gnomAD
CA3076053
rs763175283
377 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3076072
rs775179109
380 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA3076073
rs775179109
380 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA3076074
rs768194196
381 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358166450
rs1464085705
385 P>T No ClinGen
TOPMed
gnomAD
rs761190089
CA105663087
388 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA358166479
rs1553933331
389 V>M No ClinGen
Ensembl
rs139673474
CA3076077
390 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3076078
rs374327031
390 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs139673474
CA358166483
390 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377432911
CA3076079
391 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766274911
CA3076080
394 I>V No ClinGen
ExAC
gnomAD
CA3076081
rs751873781
395 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs751873781
CA358166517
395 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA358166531
rs755232976
397 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA3076082
rs755232976
397 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA3076084
rs368907722
399 P>A No ClinGen
ESP
ExAC
gnomAD
CA3076085
rs149774219
399 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA105663160
rs976356893
400 Y>H No ClinGen
TOPMed
gnomAD
CA3076086
rs778355069
402 I>V No ClinGen
ExAC
gnomAD
TCGA novel 403 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3076087
rs749781458
407 K>T No ClinGen
ExAC
gnomAD
rs1190377514
CA358166607
409 S>C No ClinGen
gnomAD
CA358166633
rs1271940028
413 G>R No ClinGen
TOPMed
rs931852692
CA105663164
415 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA358166676
rs1289493573
417 C>S No ClinGen
gnomAD
CA3076111
rs779352330
418 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA3076112
rs746236814
421 C>S No ClinGen
ExAC
gnomAD
CA358166705
rs746236814
421 C>Y No ClinGen
ExAC
gnomAD
CA358166712
rs1277364389
422 K>R No ClinGen
gnomAD
rs145734227
CA358166722
423 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 423 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3076114
rs780956984
424 H>Y No ClinGen
ExAC
gnomAD
CA3076116
rs769388863
425 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA3076115
rs139612462
425 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358166739
rs1215945769
426 A>G No ClinGen
gnomAD
CA358166754
rs1264645622
428 F>L No ClinGen
TOPMed
gnomAD
CA3076117
rs772578743
429 S>L No ClinGen
ExAC
gnomAD
rs111784524
CA105664992
429 S>P No ClinGen
Ensembl
CA358166784
rs1468539040
431 V>L No ClinGen
TOPMed
gnomAD
rs771019411
CA3076119
432 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1161713443
CA358166818
434 F>S No ClinGen
TOPMed
gnomAD
CA358166840
rs1165357791
435 H>Q No ClinGen
gnomAD
rs774360674
CA3076121
436 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1404967631
CA358166856
437 K>Q No ClinGen
gnomAD
rs1400263832
CA358166896
439 P>R No ClinGen
gnomAD
rs770544743
CA105665002
442 L>V No ClinGen
TOPMed
rs767201445
CA3076123
447 T>I No ClinGen
ExAC
gnomAD
CA3076124
rs146600325
448 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 449 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1297443218
CA358166981
450 H>Y No ClinGen
gnomAD
CA3076125
rs760776765
451 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3076126
rs764283305
458 R>K No ClinGen
ExAC
gnomAD
CA358167527
rs1223955973
460 G>R No ClinGen
gnomAD
rs1467525176
CA358167823
463 T>S No ClinGen
gnomAD
CA3076147
rs765299069
464 I>F No ClinGen
ExAC
gnomAD
rs1214219965
CA358167903
471 S>F No ClinGen
TOPMed
CA358167913
rs1202855417
472 D>V No ClinGen
gnomAD
rs750972068
CA3076149
473 G>D No ClinGen
ExAC
gnomAD
CA358167920
rs1333078924
473 G>S No ClinGen
gnomAD
rs1303550027
CA358167952
475 S>G No ClinGen
gnomAD
CA3076150
rs763349824
477 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA3076151
rs766864034
478 V>G No ClinGen
ExAC
gnomAD
rs1244254053
CA358168040
481 K>E No ClinGen
TOPMed
CA3076152
rs141362649
COSM1051102
483 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3076153
rs370376245
483 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1578708929
CA358168133
487 H>R No ClinGen
Ensembl
CA3076155
rs201276222
489 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs558522972
CA3076156
494 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA3076157
rs143377960
494 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760140095
CA3076158
495 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA358168253
rs1478092986
496 S>P No ClinGen
gnomAD
rs1184779832
CA358168264
498 I>V No ClinGen
TOPMed
gnomAD
CA105667362
rs78869897
499 E>* No ClinGen
Ensembl
rs373927651
CA3076159
499 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779974769
CA3076160
501 Q>H No ClinGen
ExAC
gnomAD
rs1578709015
CA358168297
502 N>K No ClinGen
Ensembl
CA3076162
rs151328982
506 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3076163
rs151328982
506 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 509 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1322274050
CA358168360
510 A>P No ClinGen
gnomAD
TCGA novel 510 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358168368
rs1331086746
510 A>V No ClinGen
gnomAD
rs761994494
CA3076164
511 P>A No ClinGen
ExAC
gnomAD
CA358168386
rs1316385964
512 M>K No ClinGen
gnomAD
CA3076165
rs769913953
512 M>V No ClinGen
ExAC
gnomAD
rs773191477
CA3076167
514 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA3076166
rs773191477
514 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1266325500
CA358168472
518 F>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA358168498
rs1489569027
520 N>Y No ClinGen
gnomAD
CA3076169
rs140659600
524 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1209533561
CA358168569
525 N>H No ClinGen
TOPMed
CA3076171
rs767992185
525 N>K No ClinGen
ExAC
gnomAD
CA3076170
rs759878636
525 N>T No ClinGen
ExAC
gnomAD
CA3076172
rs202012657
526 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358168583
rs1421227489
526 M>V No ClinGen
gnomAD
rs1219378673
CA358169955
527 D>H No ClinGen
TOPMed
CA358169961
rs1453847744
528 K>Q No ClinGen
TOPMed
CA3076205
CA358169984
rs765879421
530 Q>H No ClinGen
ExAC
gnomAD
CA358169986
rs751498883
531 V>F No ClinGen
ExAC
gnomAD
CA3076206
rs751498883
531 V>I No ClinGen
ExAC
gnomAD
CA3076208
rs754927569
534 E>K No ClinGen
ExAC
gnomAD
rs781063688
CA3076209
535 E>A No ClinGen
ExAC
gnomAD
rs868161780
CA105672085
536 G>V No ClinGen
Ensembl
TCGA novel 536 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 538 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3076210
rs747937480
540 C>R No ClinGen
ExAC
gnomAD
rs1176263647
CA358170064
542 A>T No ClinGen
gnomAD
rs755849428
CA3076211
544 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs1419011120
CA358170092
546 P>S No ClinGen
gnomAD
rs1437495671
CA358170111
548 E>D No ClinGen
gnomAD
CA358170108
rs1361393969
548 E>G No ClinGen
TOPMed
gnomAD
rs777918944
CA3076212
548 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs774470418
CA3076215
550 I>M No ClinGen
ExAC
gnomAD
rs749524615
CA3076214
550 I>N No ClinGen
ExAC
gnomAD
CA3076213
rs749524615
550 I>T No ClinGen
ExAC
gnomAD
rs772738742
CA3076217
553 T>A No ClinGen
ExAC
gnomAD
rs1220124350
CA358170142
553 T>K No ClinGen
TOPMed
TCGA novel 555 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3076219
rs761178621
558 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA358147649
rs1199248352
560 A>V No ClinGen
gnomAD
CA3076243
rs768949544
562 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA358147773
rs1389336497
563 D>E No ClinGen
TOPMed
CA3076244
rs142179394
563 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA3076245
rs775075968
566 D>G No ClinGen
ExAC
gnomAD
CA358147903
rs1167042006
567 R>* No ClinGen
gnomAD
CA3076247
rs773931086
567 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs142742120
CA3076248
568 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1395563305
CA358147963
569 N>Y No ClinGen
gnomAD
TCGA novel 570 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200001044
CA3076249
571 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA358148075
rs1269359549
574 K>R No ClinGen
gnomAD
rs775794446 575 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3076251
rs752674400
578 K>E No ClinGen
ExAC
gnomAD
CA105639877
rs934106049
578 K>T No ClinGen
TOPMed
rs1229639482
CA358148161
579 S>N No ClinGen
gnomAD
CA3076252
rs760641819
579 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1216696144
CA358148188
580 I>M No ClinGen
gnomAD
CA358148185
rs1358175427
580 I>T No ClinGen
gnomAD
rs763890911
CA358148217
582 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs1439833736
CA358148228
582 L>P No ClinGen
TOPMed
rs763890911
CA3076253
582 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA3076255
rs756935850
583 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs753699919
CA3076254
583 P>S No ClinGen
ExAC
gnomAD
CA358148255
rs1183757115
584 I>V No ClinGen
gnomAD
rs1282501781
CA358148277
585 Q>P No ClinGen
TOPMed
rs200159482
CA3076259
586 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358148339
rs1578717589
589 C>R No ClinGen
Ensembl
CA105639931
rs532101760
595 D>G No ClinGen
1000Genomes
TOPMed
gnomAD
rs76972854
CA105639957
600 Y>C No ClinGen
Ensembl
VAR_055966
CA3076266
rs35518193
601 I>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs770038480
CA3076265
601 I>V No ClinGen
ExAC
gnomAD
rs778090804
CA3076284
605 G>E No ClinGen
ExAC
gnomAD
rs771745304
CA3076286
607 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA3076285
rs749608163
607 M>V No ClinGen
ExAC
gnomAD
rs1183073172
CA358149158
608 I>M No ClinGen
TOPMed
gnomAD
rs775058457
CA3076287
608 I>S No ClinGen
ExAC
gnomAD
rs1199438246
CA358149255
611 D>G No ClinGen
gnomAD
rs144099563
CA105641241
613 L>S No ClinGen
ESP
rs746542920
COSM1051104
CA3076288
617 R>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1378180098
CA358149638
623 A>T No ClinGen
gnomAD
rs761633831
CA3076292
624 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA358149761
rs1466805478
626 E>D No ClinGen
TOPMed
rs773170757
CA3076294
627 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA358149795
rs1397666283
628 V>L No ClinGen
gnomAD
rs1390357488
CA358149843
629 Y>H No ClinGen
gnomAD
rs1252579551
CA358149928
631 F>Y No ClinGen
TOPMed
rs751714095
CA3076297
633 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1281780234
CA358150003
634 R>K No ClinGen
gnomAD
CA358150034
rs1219623515
636 G>S No ClinGen
gnomAD
rs1578719583
CA358150174
639 Y>F No ClinGen
Ensembl
rs1017383223
CA105641320
643 I>N No ClinGen
TOPMed
gnomAD
rs1014775605
CA105641334
644 T>I No ClinGen
TOPMed
CA3076300
rs753301217
645 P>L No ClinGen
ExAC
gnomAD
CA358150616
rs1290996774
647 D>E No ClinGen
gnomAD
CA3076317
rs759659767
649 S>N No ClinGen
ExAC
gnomAD
CA358150681
rs200594796
650 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200594796
CA3076318
650 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752754983
CA3076319
654 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1578720171
CA358150887
657 D>G No ClinGen
Ensembl
CA3076320
rs756121281
657 D>N No ClinGen
ExAC
gnomAD
rs1208361609
CA358150910
658 T>S No ClinGen
TOPMed
rs1422287864
CA358150937
659 E>A No ClinGen
gnomAD
CA3076321
rs764600950
660 N>Y No ClinGen
ExAC
gnomAD
TCGA novel 662 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3076322
rs754330951
664 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA105641747
rs868617695
664 E>K No ClinGen
Ensembl
CA358151147
rs181365352
CA105641758
665 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376346224
CA358151158
666 G>* No ClinGen
ESP
TOPMed
gnomAD
rs376346224
CA105641763
666 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs370559089
CA3076324
667 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3076325
rs750750229
668 D>N No ClinGen
ExAC
gnomAD
CA105641772
rs1052485217
669 Q>R No ClinGen
TOPMed
rs754616376
CA3076326
670 P>A No ClinGen
ExAC
gnomAD
rs373662475
CA3076327
673 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 674 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs943339830
CA105641788
677 K>E No ClinGen
Ensembl
CA358151527
rs1218617802
680 E>K No ClinGen
TOPMed
gnomAD
rs1258756696
CA358151551
681 L>V No ClinGen
gnomAD
CA3076340
rs141383757
685 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760804812
CA3076339
685 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs754384150
CA3076341
687 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA358153054
rs762330089
688 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs762330089
CA3076342
688 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs933923063
CA358153112
689 Q>H No ClinGen
TOPMed
gnomAD
TCGA novel 692 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 692 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358153327
rs1296504500
693 M>I No ClinGen
gnomAD
CA358153279
rs1444513341
693 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs765735851
CA3076343
694 E>D No ClinGen
ExAC
gnomAD
CA3076344
rs750756526
695 H>Q No ClinGen
ExAC
gnomAD
rs563636394
CA3076345
696 E>G No ClinGen
1000Genomes
ExAC
gnomAD
CA358153485
rs1321225893
698 R>K No ClinGen
gnomAD
TCGA novel 698 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 699 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780763902
CA3076346
699 P>R No ClinGen
ExAC
gnomAD
CA3076348
rs755721610
705 L>S No ClinGen
ExAC
gnomAD
CA358153798
rs1578723726
707 K>R No ClinGen
Ensembl
CA358153849
rs1201851138
708 K>R No ClinGen
gnomAD
CA105645094
rs961924596
710 Q>L No ClinGen
Ensembl
CA358153964
rs1480595099
711 L>F No ClinGen
gnomAD
CA3076349
rs150820556
713 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1271668208
CA358154054
714 K>R No ClinGen
gnomAD
CA358154105
rs1479700870
716 I>L No ClinGen
gnomAD
CA358154183
rs1199116718
717 E>D No ClinGen
gnomAD
rs1421843818
CA358154223
719 Y>H No ClinGen
TOPMed
rs745815388
CA3076373
724 E>G No ClinGen
ExAC
gnomAD
TCGA novel 725 R>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358154986
rs1346686035
725 R>K No ClinGen
gnomAD
CA358154989
rs1176429456
725 R>S No ClinGen
TOPMed
CA358154994
rs35293559
726 Y>C No ClinGen
TOPMed
CA105647133
rs35293559
726 Y>S No ClinGen
TOPMed
rs779803834
CA3076375
727 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs746766175
CA3076376
727 D>V No ClinGen
ExAC
gnomAD
CA3076377
rs144266138
730 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3076378
rs144266138
730 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1312226836
CA358155019
730 D>Y No ClinGen
gnomAD
rs188444903
CA105647146
731 P>A No ClinGen
1000Genomes
CA358155026
rs1222320821
731 P>L No ClinGen
TOPMed
gnomAD
rs1560673025
CA358155032
732 T>S No ClinGen
Ensembl
rs1449161952
CA358155037
733 E>A No ClinGen
gnomAD
CA358155038
rs1449161952
733 E>G No ClinGen
gnomAD
CA358155035
rs1285557113
733 E>Q No ClinGen
gnomAD
CA3076379
rs748234108
734 M>V No ClinGen
ExAC
gnomAD
CA3076380
rs769908985
735 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 737 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751227493
CA3076382
739 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA358155089
rs1383389619
740 C>Y No ClinGen
TOPMed
gnomAD
rs1443948178
CA358155098
741 I>T No ClinGen
gnomAD
rs1159243937
CA358155106
742 S>I No ClinGen
gnomAD
rs774890193
CA3076384
744 A>T No ClinGen
ExAC
gnomAD
rs1317348970
CA358155121
744 A>V No ClinGen
TOPMed
gnomAD
CA105647187
rs919299778
745 M>V No ClinGen
Ensembl
CA3076385
rs368309114
746 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3076386
rs763855793
750 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA3076387
rs753528822
752 M>I No ClinGen
ExAC
gnomAD
CA3076388
rs756784442
COSM71108
754 A>S ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA358155209
rs1280683878
756 N>K No ClinGen
gnomAD
CA358155237
rs1310576941
760 L>P No ClinGen
TOPMed
rs764775026
CA3076389
761 T>N No ClinGen
ExAC
gnomAD
TCGA novel 762 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1222445085
CA358155244
762 Q>E No ClinGen
TOPMed
gnomAD
rs945749857
CA105647204
762 Q>R No ClinGen
TOPMed
CA358155254
rs1158246635
763 D>G No ClinGen
TOPMed
rs890554275
CA105647208
764 P>S No ClinGen
Ensembl
CA105647209
rs201549238
766 V>A No ClinGen
gnomAD
CA3076390
rs750378043
771 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs758391283
CA3076391
773 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs779898034
CA3076392
774 K>N No ClinGen
ExAC
gnomAD
rs1181064249
CA358155374
779 D>Y No ClinGen
gnomAD
TCGA novel 780 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs577791012
CA3076407
782 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1196985707
CA358156040
784 P>T No ClinGen
TOPMed
gnomAD
rs1033733325
CA105648757
785 I>T No ClinGen
TOPMed
CA358156056
rs1578728336
786 I>T No ClinGen
Ensembl
CA105648762
rs749952346
787 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA358156100
rs1169146562
792 K>N No ClinGen
gnomAD
rs867939995
CA105648764
793 A>E No ClinGen
Ensembl
rs867939995
CA358156106
793 A>V No ClinGen
Ensembl
CA3076410
rs766361485
795 V>G No ClinGen
ExAC
gnomAD
rs762310262
CA3076409
795 V>L No ClinGen
ExAC
gnomAD
rs1013879626
CA105648769
796 P>L No ClinGen
TOPMed
rs1205849273
CA358156133
798 D>H No ClinGen
TOPMed
rs1205849273
CA358156132
798 D>N No ClinGen
TOPMed
CA3076411
rs751493820
801 K>E No ClinGen
ExAC
gnomAD
CA358156167
rs1346663710
803 N>H No ClinGen
gnomAD
CA105648797
rs896563540
803 N>S No ClinGen
TOPMed
rs1276986056
CA358156177
804 S>N No ClinGen
TOPMed
rs1295866330
CA358156193
806 H>P No ClinGen
gnomAD
CA3076413
rs374915463
807 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1023720279
CA105648828
808 G>D No ClinGen
Ensembl
rs560480699
CA3076417
810 M>T No ClinGen
1000Genomes
ExAC
gnomAD
CA3076416
rs756393820
810 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs771125522
CA3076419
812 G>E No ClinGen
ExAC
gnomAD
CA358156252
rs1490805602
815 G>R No ClinGen
TOPMed
gnomAD
rs1220013002
CA358156262
816 T>I No ClinGen
TOPMed
gnomAD
CA555019701
rs1428760016
819 K>* No ClinGen
gnomAD
CA105648880
rs966571579
820 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA358156295
rs1430321643
821 D>G No ClinGen
TOPMed
rs1194956366
CA358156302
822 S>* No ClinGen
gnomAD
rs746346333
CA3076421
825 D>G No ClinGen
ExAC
gnomAD
CA358156342
rs1352590186
828 Q>* No ClinGen
TOPMed
gnomAD
CA3076423
rs775946595
829 H>D No ClinGen
ExAC
gnomAD
CA358156352
rs1427068748
829 H>R No ClinGen
TOPMed
gnomAD
rs995367762
CA105648929
830 T>A No ClinGen
TOPMed
rs995367762
CA105648925
830 T>P No ClinGen
TOPMed
rs1365283331
CA358156391
COSM1051108
832 S>F Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA3076424
rs760880952
833 S>Y No ClinGen
ExAC
gnomAD
rs371892052
CA3076425
834 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs560229683
CA358156457
837 E>* No ClinGen
TOPMed
gnomAD
rs560229683
CA105649003
837 E>K No ClinGen
TOPMed
gnomAD
rs560229683
CA105649015
837 E>Q No ClinGen
TOPMed
gnomAD
TCGA novel 839 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201654252
CA105649018
840 D>Y No ClinGen
1000Genomes
ExAC
gnomAD

No associated diseases with O95757

2 regional properties for O95757

Type Name Position InterPro Accession
conserved_site Heat shock protein 70, conserved site 338 - 352 IPR018181
domain HSPA4L, nucleotide-binding domain 2 - 384 IPR042708

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • May translocate to the nucleus after heat shock
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
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.
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.

2 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP-dependent protein folding chaperone Binding to a protein or a protein-containing complex to assist the protein folding process, driven by ATP hydrolysis.

2 GO annotations of biological process

Name Definition
protein folding The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
response to unfolded protein 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 unfolded protein stimulus.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P32590 SSE2 Heat shock protein homolog SSE2 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
P32589 SSE1 Heat shock protein homolog SSE1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q61316 Hspa4 Heat shock 70 kDa protein 4 Mus musculus (Mouse) PR
P48722 Hspa4l Heat shock 70 kDa protein 4L Mus musculus (Mouse) PR
Q05036 hsp-110 Heat shock protein 110 Caenorhabditis elegans PR
10 20 30 40 50 60
MSVVGIDLGF LNCYIAVARS GGIETIANEY SDRCTPACIS LGSRTRAIGN AAKSQIVTNV
70 80 90 100 110 120
RNTIHGFKKL HGRSFDDPIV QTERIRLPYE LQKMPNGSAG VKVRYLEEER PFAIEQVTGM
130 140 150 160 170 180
LLAKLKETSE NALKKPVADC VISIPSFFTD AERRSVMAAA QVAGLNCLRL MNETTAVALA
190 200 210 220 230 240
YGIYKQDLPP LDEKPRNVVF IDMGHSAYQV LVCAFNKGKL KVLATTFDPY LGGRNFDEAL
250 260 270 280 290 300
VDYFCDEFKT KYKINVKENS RALLRLYQEC EKLKKLMSAN ASDLPLNIEC FMNDLDVSSK
310 320 330 340 350 360
MNRAQFEQLC ASLLARVEPP LKAVMEQANL QREDISSIEI VGGATRIPAV KEQITKFFLK
370 380 390 400 410 420
DISTTLNADE AVARGCALQC AILSPAFKVR EFSITDLVPY SITLRWKTSF EDGSGECEVF
430 440 450 460 470 480
CKNHPAPFSK VITFHKKEPF ELEAFYTNLH EVPYPDARIG SFTIQNVFPQ SDGDSSKVKV
490 500 510 520 530 540
KVRVNIHGIF SVASASVIEK QNLEGDHSDA PMETETSFKN ENKDNMDKMQ VDQEEGHQKC
550 560 570 580 590 600
HAEHTPEEEI DHTGAKTKSA VSDKQDRLNQ TLKKGKVKSI DLPIQSSLCR QLGQDLLNSY
610 620 630 640 650 660
IENEGKMIMQ DKLEKERNDA KNAVEEYVYD FRDRLGTVYE KFITPEDLSK LSAVLEDTEN
670 680 690 700 710 720
WLYEDGEDQP KQVYVDKLQE LKKYGQPIQM KYMEHEERPK ALNDLGKKIQ LVMKVIEAYR
730 740 750 760 770 780
NKDERYDHLD PTEMEKVEKC ISDAMSWLNS KMNAQNKLSL TQDPVVKVSE IVAKSKELDN
790 800 810 820 830
FCNPIIYKPK PKAEVPEDKP KANSEHNGPM DGQSGTETKS DSTKDSSQHT KSSGEMEVD