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 Q8IV36

Entry ID Method Resolution Chain Position Source
AF-Q8IV36-F1 Predicted AlphaFoldDB

596 variants for Q8IV36

Variant ID(s) Position Change Description Diseaes Association Provenance
VAR_087635 130 Q>del DEE105 [UniProt] Yes UniProt
VAR_087636 187 G>D DEE105; unknown pathological significance [UniProt] Yes UniProt
rs994473385
VAR_087637
CA293986240
433 R>W Variant assessed as Somatic; 0.0 impact. DEE105; unknown pathological significance; patient fibroblasts show normal expression and localization [NCI-TCGA, UniProt] Yes ClinGen
UniProt
NCI-TCGA
TOPMed
dbSNP
gnomAD
VAR_087638 533 L>P DEE105; unknown pathological significance [UniProt] Yes UniProt
CA8755450
rs752532048
RCV001267525
668 R>* Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
dbSNP
gnomAD
CA293998130
rs765807238
3 S>L No ClinGen
Ensembl
rs1201379111
CA400976345
4 T>S No ClinGen
TOPMed
gnomAD
rs1483106541
CA400976320
5 D>N No ClinGen
gnomAD
CA400976256
rs1243081481
7 K>R No ClinGen
gnomAD
rs769201694
CA8756132
8 L>M No ClinGen
ExAC
gnomAD
rs1205830323
CA400976219
8 L>P No ClinGen
gnomAD
CA400976132
rs1355913666
11 R>Q No ClinGen
gnomAD
CA293998101
rs372629976
13 A>T No ClinGen
ESP
rs1239327166
CA400976058
16 Q>* No ClinGen
gnomAD
CA400976057
rs1219001434
16 Q>R No ClinGen
gnomAD
CA400975980
rs1276409154
19 T>I No ClinGen
gnomAD
CA400975942
rs1433968606
20 K>* No ClinGen
gnomAD
rs1567968076
CA400975908
21 T>M No ClinGen
Ensembl
CA400975876
rs1318531797
22 Q>R No ClinGen
gnomAD
rs748034408
CA293991040
24 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8756114
rs748034408
24 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 25 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1256989015
CA400973527
27 T>A No ClinGen
gnomAD
COSM984226
CA8756112
rs370760336
28 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400973494
rs1286530685
28 D>V No ClinGen
gnomAD
rs775812712
CA400973450
30 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs775812712
CA293991018
30 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs775812712
CA8756111
30 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1332483429
CA400973396
32 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8756109
rs746123243
33 D>G No ClinGen
ExAC
gnomAD
CA8756110
rs144240027
33 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8756108
rs550526711
34 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
CA8756107
rs757343675
35 F>L No ClinGen
ExAC
gnomAD
rs781124876
CA8756105
42 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs374859798
CA8756104
COSM3937555
42 S>L oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA400973106
rs1180312938
43 V>L No ClinGen
gnomAD
rs1180312938
CA400973109
43 V>M No ClinGen
gnomAD
rs1420589191
CA400973091
44 Q>E No ClinGen
gnomAD
rs1047732716
CA293990998
45 D>V No ClinGen
TOPMed
CA400973059
rs1598631348
45 D>Y No ClinGen
Ensembl
CA400972959
rs1213919850
48 A>V No ClinGen
TOPMed
gnomAD
CA8756101
rs758025775
51 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 54 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1487421284
CA400972820
55 I>V No ClinGen
gnomAD
CA8756098
rs761235028
56 R>Q No ClinGen
ExAC
gnomAD
rs764800847
CA8756099
56 R>W No ClinGen
ExAC
gnomAD
CA400972787
rs1246347723
57 A>T No ClinGen
TOPMed
rs772620394
CA8756093
58 V>A No ClinGen
ExAC
gnomAD
CA8756094
COSM1198226
rs775973798
58 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs774437062
CA8756091
59 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs770981940
CA8756090
60 E>* No ClinGen
ExAC
gnomAD
rs770981940
CA400972689
60 E>K No ClinGen
ExAC
gnomAD
rs1598631223
CA400972532
66 L>W No ClinGen
Ensembl
rs781071699
CA8756088
67 A>S No ClinGen
ExAC
gnomAD
TCGA novel 70 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1244577638
CA400972344
72 K>T No ClinGen
gnomAD
rs1227827483
CA400972173
74 V>A No ClinGen
TOPMed
CA8756064
rs375554232
74 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 75 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 75 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778808845
CA8756063
76 K>* No ClinGen
ExAC
gnomAD
CA400972158
rs756835483
76 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1341816360
CA400972147
78 V>L No ClinGen
TOPMed
rs1341816360
CA400972151
78 V>M No ClinGen
TOPMed
rs937700518
CA293990429
81 A>G No ClinGen
TOPMed
gnomAD
rs937700518
CA400972073
81 A>V No ClinGen
TOPMed
gnomAD
CA8756061
rs777414873
CA8756060
83 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA8756059
rs755686908
84 G>A No ClinGen
ExAC
gnomAD
rs753193891
CA400972004
85 C>* No ClinGen
ExAC
gnomAD
CA8756058
rs753193891
85 C>W No ClinGen
ExAC
gnomAD
CA8756056
rs759908194
87 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs560606322
CA8756057
87 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8756051
rs773491765
94 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8756049
rs761896254
97 C>R No ClinGen
ExAC
gnomAD
CA8756047
rs564663860
99 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8756048
rs775365525
99 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1374211782
CA400971798
101 L>V No ClinGen
gnomAD
rs373878391
CA8756045
103 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400971766
rs1434457741
103 R>H No ClinGen
TOPMed
rs777577968
CA8756043
104 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs777577968
CA8756042
104 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs780799313
CA8756039
107 Y>C No ClinGen
ExAC
gnomAD
rs1272818318
CA400971727
108 I>V No ClinGen
TOPMed
CA400971714
rs1426095019
109 F>L No ClinGen
gnomAD
rs1254635572
CA400971710
109 F>S No ClinGen
TOPMed
gnomAD
rs752169291
CA8756038
111 D>E No ClinGen
ExAC
gnomAD
CA293990303
rs757908304
111 D>N No ClinGen
Ensembl
CA293990288
rs911569963
113 D>N No ClinGen
Ensembl
rs1327078397
CA400971626
115 R>T No ClinGen
TOPMed
CA400971617
rs1240322568
116 G>S No ClinGen
gnomAD
rs987174477
CA293990285
118 F>L No ClinGen
Ensembl
rs1207482312
CA400971533
119 W>G No ClinGen
TOPMed
rs1338907593
CA400971450
123 P>S No ClinGen
TOPMed
gnomAD
rs1245818216
CA400971424
124 G>E No ClinGen
TOPMed
rs762061892
CA8756032
124 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA8756031
rs776669142
125 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8756030
rs749955487
127 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA8756029
rs759385862
127 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs774346194
CA8756028
128 G>E No ClinGen
ExAC
gnomAD
rs1328957831
CA400971286
129 G>A No ClinGen
gnomAD
CA8756011
rs60549366
RCV000957651
130 Q>E No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs774103506
CA8756010
131 G>E No ClinGen
ExAC
gnomAD
rs1315783003
CA400969865
133 E>D No ClinGen
TOPMed
gnomAD
CA8756009
rs763027855
134 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA8756008
rs763027855
134 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1268280547
CA400969856
134 D>Y No ClinGen
gnomAD
TCGA novel 136 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8756007
rs371748986
136 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769771624
CA8756005
137 H>Q No ClinGen
ExAC
gnomAD
CA400969749
rs1480925184
137 H>Y No ClinGen
TOPMed
CA400969728
rs1178381136
138 A>S No ClinGen
TOPMed
CA293989923
rs373198449
140 P>L No ClinGen
ESP
gnomAD
rs137932129
CA8756004
140 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1332533119
CA400969615
142 A>T No ClinGen
gnomAD
rs767995195
CA8756002
143 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA400969517
rs1363050933
146 L>F No ClinGen
TOPMed
gnomAD
rs780386086
CA8756000
147 L>R No ClinGen
ExAC
gnomAD
rs1445022416
CA400969488
148 A>P No ClinGen
TOPMed
rs1445022416
CA400969487
148 A>T No ClinGen
TOPMed
CA293989901
rs891570090
150 A>G No ClinGen
Ensembl
rs779243710
CA8755997
154 F>L No ClinGen
ExAC
gnomAD
CA8755996
rs757621158
156 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1027447739
CA400969260
157 D>E No ClinGen
TOPMed
gnomAD
CA8755994
rs778077085
159 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA400969200
rs1307964652
160 V>A No ClinGen
TOPMed
CA400969218
rs1322436699
160 V>I No ClinGen
gnomAD
rs1258269146
CA400969158
161 Q>H No ClinGen
TOPMed
gnomAD
CA8755992
rs752788202
164 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8755993
rs200188260
164 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8755991
rs200779853
165 R>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8755964
rs141208708
170 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8755963
rs759065553
171 A>V No ClinGen
ExAC
gnomAD
CA400968764
rs1198534316
172 E>Q No ClinGen
TOPMed
CA8755961
rs771435641
174 V>I No ClinGen
ExAC
gnomAD
CA8755960
rs749805204
175 H>N No ClinGen
ExAC
gnomAD
rs773615764
CA8755959
176 S>Y No ClinGen
ExAC
gnomAD
CA8755957
rs748339586
178 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs748339586
CA400968655
178 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs781581387
CA8755956
181 E>K No ClinGen
ExAC
gnomAD
CA400968460
rs576317687
186 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8755955
rs576317687
186 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400968409
rs1279947239
189 G>A No ClinGen
gnomAD
COSM984222
CA8755953
rs780322261
191 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400968363
rs1304950512
191 A>V No ClinGen
gnomAD
CA8755952
rs147489114
192 H>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1598627983
CA400968353
192 H>P No ClinGen
Ensembl
CA8755951
RCV000963518
rs147489114
192 H>Y No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs142613998
CA8755950
193 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142613998
CA400968326
193 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142613998
CA400968332
193 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752294242
CA8755948
195 Q>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 195 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1416564960
CA400968273
196 P>S No ClinGen
TOPMed
gnomAD
rs773826630
CA400968198
199 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA293989193
rs775149074
199 I>V No ClinGen
Ensembl
rs141799560
CA8755942
201 D>N Variant assessed as Somatic; 9.273e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8755943
rs141799560
201 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs145815928
CA400968101
CA8755941
203 N>K No ClinGen
ESP
ExAC
gnomAD
CA400968089
rs1356931587
204 R>P No ClinGen
TOPMed
TCGA novel 207 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772140976
CA8755914
216 S>Y No ClinGen
ExAC
gnomAD
COSM1385891
rs777264298
CA293988860
217 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs777264298
CA293988851
217 E>Q No ClinGen
TOPMed
gnomAD
CA293988849
rs995595778
219 M>T No ClinGen
TOPMed
CA8755913
rs368292874
219 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1446132686
CA400967546
COSM1710770
222 P>L skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA400967557
rs1302454272
222 P>S No ClinGen
TOPMed
gnomAD
CA8755912
rs779085194
224 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA400967521
rs1465501884
225 P>A No ClinGen
gnomAD
rs759829067
CA293988831
225 P>L No ClinGen
TOPMed
rs1465501884
CA400967524
225 P>T No ClinGen
gnomAD
CA8755910
rs748137995
227 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA400967491
rs1429748326
227 S>N No ClinGen
gnomAD
CA400967443
rs1264303093
230 T>S No ClinGen
TOPMed
rs1459716242
CA400967425
231 N>K No ClinGen
gnomAD
CA400967439
rs1489490028
231 N>Y No ClinGen
TOPMed
CA400967398
rs1204058646
233 W>C No ClinGen
gnomAD
CA400967412
rs1244680359
233 W>R No ClinGen
gnomAD
rs751158864
CA8755907
234 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs757886151
CA8755905
235 Q>H No ClinGen
ExAC
gnomAD
rs139794488
CA8755906
235 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 237 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA293988786
rs370791030
240 T>M No ClinGen
ESP
rs762398521
CA8755902
241 E>K No ClinGen
ExAC
gnomAD
rs1189691497
CA400966005
244 H>Q No ClinGen
TOPMed
CA400966021
rs1567961570
244 H>Y No ClinGen
Ensembl
CA8755869
rs747017591
245 A>V No ClinGen
ExAC
TCGA novel 247 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA293987636
rs919317873
247 P>L No ClinGen
TOPMed
gnomAD
CA400965954
rs1330940644
247 P>S No ClinGen
gnomAD
CA8755868
rs776419941
248 L>F No ClinGen
ExAC
gnomAD
rs1377079692
CA400965860
251 S>C No ClinGen
TOPMed
rs151029805
CA8755867
253 L>F No ClinGen
ESP
ExAC
gnomAD
CA400965818
rs1303246563
254 N>D No ClinGen
gnomAD
CA8755865
rs778729629
256 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA8755864
rs558333560
257 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA400965714
rs912429839
259 Y>C No ClinGen
TOPMed
gnomAD
rs912429839
CA293987609
259 Y>F No ClinGen
TOPMed
gnomAD
CA8755862
rs369969676
261 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400965652
COSM1246559
rs1269621974
263 G>V oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
CA293987598
rs954121473
CA400965632
COSM984220
265 G>R endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs760343096
CA293987572
269 N>H No ClinGen
Ensembl
rs979485788
CA293987571
269 N>S No ClinGen
Ensembl
rs1205992642
CA400965566
270 H>Y No ClinGen
gnomAD
CA8755859
rs767704636
272 L>F No ClinGen
ExAC
gnomAD
rs751735488
CA8755858
274 S>F No ClinGen
ExAC
gnomAD
rs751735488
CA8755857
274 S>Y No ClinGen
ExAC
gnomAD
rs1351988607
CA400965492
277 R>Q No ClinGen
TOPMed
rs766623481
CA8755856
277 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM984219
rs568938255
CA8755855
278 E>K endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
TCGA novel 284 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400965392
rs1319846302
285 A>V No ClinGen
gnomAD
CA400965344
rs1405019526
289 I>T No ClinGen
gnomAD
CA400965350
rs1598624860
289 I>V No ClinGen
Ensembl
rs199937444
CA8755853
295 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400965253
rs1219690226
296 S>G No ClinGen
TOPMed
gnomAD
CA8755852
rs760526503
296 S>N No ClinGen
ExAC
gnomAD
rs1474452167
CA400965240
297 A>T No ClinGen
gnomAD
CA293987532
rs887996983
297 A>V No ClinGen
gnomAD
CA400965216
rs1442077357
298 S>N No ClinGen
gnomAD
CA8755851
rs775504667
300 A>V No ClinGen
ExAC
gnomAD
CA400965157
rs1257953675
301 S>G No ClinGen
gnomAD
rs199789895
CA8755847
304 V>E No ClinGen
ExAC
TOPMed
gnomAD
CA8755848
rs745706726
304 V>M No ClinGen
ExAC
TOPMed
CA293987525
rs866918533
305 D>N No ClinGen
TOPMed
CA293987522
rs866918533
305 D>Y No ClinGen
TOPMed
CA8755845
rs145457561
COSM1640799
306 G>S stomach [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400965035
rs1598624727
307 T>P No ClinGen
Ensembl
CA8755844
rs777414933
307 T>S No ClinGen
ExAC
gnomAD
CA400965019
rs1321054038
308 T>P No ClinGen
TOPMed
CA400964996
rs755651210
309 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs755651210
CA8755843
309 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA400964975
rs1454361718
310 G>D No ClinGen
gnomAD
rs539424210
CA8755841
312 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs539424210
CA8755840
312 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs751895088
CA8755839
312 A>V No ClinGen
ExAC
gnomAD
rs1239952574
CA400964826
317 D>N No ClinGen
TOPMed
rs144555805
CA8755817
318 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1359720035
CA400964695
319 P>A No ClinGen
gnomAD
rs1567961231
CA400964676
320 G>D No ClinGen
Ensembl
rs750588448
CA8755816
320 G>S No ClinGen
ExAC
gnomAD
CA400964627
rs1375322922
325 F>L No ClinGen
gnomAD
rs150094838
CA293987376
325 F>S No ClinGen
1000Genomes
TOPMed
gnomAD
CA8755815
rs779225029
326 V>L No ClinGen
ExAC
gnomAD
COSM231880
rs753931970
CA8755813
331 R>C skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs769272077
CA8755812
331 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs751544520
CA8755810
334 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400964567
rs1337925925
334 R>H No ClinGen
TOPMed
CA400964559
rs1402779323
335 E>D No ClinGen
gnomAD
CA400964556
rs1409216947
336 E>Q No ClinGen
gnomAD
rs1184353563
CA400964480
338 F>L No ClinGen
gnomAD
CA400964474
rs1486649321
339 Q>* No ClinGen
gnomAD
TCGA novel 341 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8755795
rs777839089
343 K>E No ClinGen
ExAC
gnomAD
rs756272962
CA400964411
343 K>N No ClinGen
ExAC
gnomAD
CA400964391
rs1293543105
345 I>T No ClinGen
gnomAD
CA8755793
rs751491363
345 I>V No ClinGen
ExAC
gnomAD
CA8755792
rs368511165
346 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750214001
CA8755790
347 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8755791
rs375870263
347 R>W No ClinGen
ESP
ExAC
gnomAD
rs1429845665
CA400964317
352 P>A No ClinGen
TOPMed
gnomAD
rs1429845665
CA400964315
352 P>T No ClinGen
TOPMed
gnomAD
rs1598623491
CA400964272
356 T>P No ClinGen
Ensembl
CA400964255
rs1598623484
357 Y>S No ClinGen
Ensembl
rs1442511221
CA400964166
362 T>S No ClinGen
TOPMed
gnomAD
CA8755786
rs763538356
363 K>T No ClinGen
ExAC
gnomAD
CA400964088
rs1200910095
366 Q>* No ClinGen
gnomAD
rs1249618243
CA400964013
369 Q>R No ClinGen
gnomAD
rs1206706354
CA400963948
373 V>I No ClinGen
gnomAD
CA400963941
rs1343025481
374 L>V No ClinGen
gnomAD
CA400963811
rs1391253150
380 D>E No ClinGen
gnomAD
rs150083005
CA8755783
380 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372637330
CA8755782
382 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8755780
rs771200277
383 K>R No ClinGen
ExAC
gnomAD
CA400963592
rs773753810
CA8755761
387 F>L No ClinGen
ExAC
gnomAD
rs992306352
CA293986701
387 F>L No ClinGen
TOPMed
gnomAD
CA8755760
rs770120006
388 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA8755759
rs748439446
389 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA293986680
rs35033557
391 K>N No ClinGen
Ensembl
rs745764176
CA8755756
394 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8755754
rs777599097
395 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs777599097
CA8755752
395 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs777599097
CA8755753
395 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8755751
rs752347255
398 I>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 400 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766954930
CA8755749
400 V>I No ClinGen
ExAC
gnomAD
CA293986612
rs35498275
404 F>V No ClinGen
Ensembl
rs763565879
CA8755745
408 D>N No ClinGen
ExAC
gnomAD
rs762065351
CA400963169
410 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1209738217
CA400963166
410 R>Q No ClinGen
gnomAD
rs762065351
CA8755742
410 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs377141103
CA8755740
412 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1598622959
CA400963107
413 Q>R No ClinGen
Ensembl
rs746743370
CA8755711
414 S>F No ClinGen
ExAC
gnomAD
CA293986324
rs375659521
415 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8755708
rs375659521
415 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8755709
rs757943431
415 R>W No ClinGen
ExAC
gnomAD
CA400962965
rs1205355416
416 V>M No ClinGen
gnomAD
CA293986319
rs1010357652
419 M>V No ClinGen
Ensembl
CA400962871
rs1289229474
420 H>Q No ClinGen
gnomAD
rs141869748
CA8755707
421 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1278842583
CA400962827
422 G>D No ClinGen
gnomAD
CA8755705
rs754238751
423 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs111299695
CA293986286
425 I>T No ClinGen
Ensembl
CA400962743
rs1352355813
426 L>F No ClinGen
gnomAD
rs151291954
CA400962672
430 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs905080019
CA293986267
431 G>A No ClinGen
Ensembl
CA400962663
rs1363927420
431 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs533370610
CA293986244
432 E>Q No ClinGen
Ensembl
CA400962631
rs1306933357
432 E>V No ClinGen
TOPMed
gnomAD
CA400962616
rs1406284735
433 R>Q No ClinGen
TOPMed
gnomAD
rs898870418
CA293986220
436 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA400962532
rs1598622450
437 V>G No ClinGen
Ensembl
rs1182260707
CA400962521
438 R>Q No ClinGen
gnomAD
CA8755700
rs759642118
438 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8755698
rs769695724
439 L>P No ClinGen
ExAC
gnomAD
rs1451919449
CA400962481
440 N>S No ClinGen
gnomAD
CA400962409
rs1221939855
443 Y>* No ClinGen
gnomAD
rs966437441
CA293986173
443 Y>C No ClinGen
TOPMed
CA8755695
rs768503631
445 I>V No ClinGen
ExAC
gnomAD
rs1019560789
CA293986164
446 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8755694
rs746584960
446 R>H No ClinGen
ExAC
gnomAD
CA8755691
rs778617545
447 V>L No ClinGen
ExAC
gnomAD
CA8755690
rs778617545
447 V>M No ClinGen
ExAC
gnomAD
rs1250511369
CA400962329
448 P>S No ClinGen
TOPMed
rs1316686185
CA400962302
449 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1051911848
CA293986144
449 M>V No ClinGen
TOPMed
CA293986135
rs1000632025
450 D>E No ClinGen
TOPMed
gnomAD
rs149159856
CA8755689
455 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400962122
rs1567960074
459 A>T No ClinGen
Ensembl
CA400962112
rs1241230962
460 D>N No ClinGen
gnomAD
rs767748678
CA8755684
462 L>V No ClinGen
ExAC
gnomAD
CA293986074
rs1020635502
463 I>M No ClinGen
TOPMed
CA400961996
rs1166270806
465 V>L No ClinGen
gnomAD
CA400962000
rs1166270806
465 V>M No ClinGen
gnomAD
CA400961963
rs1598622031
467 H>R No ClinGen
Ensembl
rs1598622023
CA400961955
468 K>E No ClinGen
Ensembl
rs1390485687
CA400961949
468 K>R No ClinGen
gnomAD
rs1421894948
CA400961907
471 T>I No ClinGen
gnomAD
CA400961914
rs1598622000
471 T>P No ClinGen
Ensembl
CA293985928
rs986756577
473 G>R No ClinGen
TOPMed
gnomAD
rs1567959883
CA400961863
474 H>P No ClinGen
Ensembl
CA8755655
rs145277511
474 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400961869
rs1249732509
474 H>Y No ClinGen
TOPMed
gnomAD
CA400961843
rs1343139291
475 Q>H No ClinGen
gnomAD
rs1170400466
CA400961835
476 R>Q No ClinGen
TOPMed
CA8755653
rs770522388
476 R>W No ClinGen
ExAC
gnomAD
CA400961831
rs1555632291
477 L>V No ClinGen
Ensembl
CA400961801
rs1314009440
479 P>R No ClinGen
gnomAD
rs144198134
CA8755651
479 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400961795
rs1391343351
480 L>V No ClinGen
gnomAD
rs770319653
CA8755649
482 D>N No ClinGen
ExAC
gnomAD
rs1411195361
CA400961741
484 L>M No ClinGen
gnomAD
CA8755647
rs781471632
488 V>M No ClinGen
ExAC
gnomAD
rs1370001879
CA400961664
490 N>Y No ClinGen
gnomAD
CA8755606
rs746051732
491 V>A No ClinGen
ExAC
TOPMed
rs890182808
CA400961648
491 V>L No ClinGen
gnomAD
rs890182808
CA293985854
491 V>M No ClinGen
gnomAD
CA293984634
rs372207293
492 S>F No ClinGen
ESP
rs778057222
CA8755602
499 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA400960907
rs1276402963
500 M>I No ClinGen
TOPMed
gnomAD
CA8755601
rs754959284
500 M>L No ClinGen
ExAC
gnomAD
rs1409459827
CA400960910
500 M>T No ClinGen
TOPMed
CA293984615
rs754959284
500 M>V No ClinGen
ExAC
gnomAD
rs1228838013
CA400960905
501 V>M No ClinGen
gnomAD
rs746182882
CA293984598
503 A>T No ClinGen
gnomAD
TCGA novel 503 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1225369510
CA400960862
507 L>P No ClinGen
TOPMed
CA400960858
rs1358676604
508 H>Y No ClinGen
TOPMed
CA400960852
rs1307497811
509 L>M No ClinGen
gnomAD
rs550681683
CA8755599
511 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA8755598
rs758151493
514 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA8755597
rs750052591
516 T>S No ClinGen
ExAC
gnomAD
CA8755595
rs535980446
518 F>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8755593
rs139210935
523 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8755592
rs139210935
523 A>T Variant assessed as Somatic; 0.0005082 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400960741
rs1180805109
526 H>Y No ClinGen
gnomAD
rs915920846
CA293984572
527 H>Y No ClinGen
TOPMed
rs1429347252
CA400960727
528 L>V No ClinGen
TOPMed
rs759784137
CA8755589
531 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1444053389
CA400960698
532 L>P No ClinGen
TOPMed
rs1282232821
CA400960640
537 N>S No ClinGen
TOPMed
CA400960604
rs1287485478
540 I>F No ClinGen
gnomAD
rs998703655
CA293984555
540 I>N No ClinGen
TOPMed
gnomAD
rs1316530471
CA400960544
544 F>S No ClinGen
TOPMed
rs1440819991 545 D>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1454516200
CA400959900
547 N>H No ClinGen
gnomAD
CA400959871
rs1598617026
549 N>T No ClinGen
Ensembl
CA293982523
rs902740659
552 Y>C No ClinGen
Ensembl
rs1247200715
CA400959838
552 Y>H No ClinGen
gnomAD
rs769955314
CA400959822
553 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA8755567
rs769955314
COSM984214
553 A>T endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1268753868
CA400959809
554 I>F No ClinGen
gnomAD
rs1054797471
CA293982518
556 R>C No ClinGen
TOPMed
gnomAD
CA400959776
rs1466423295
556 R>P No ClinGen
TOPMed
CA8755565
rs781383390
558 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8755564
COSM984213
rs771893167
558 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA8755563
rs745886952
559 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA400959648
rs867350116
565 A>P No ClinGen
Ensembl
rs867350116
CA293982505
565 A>T No ClinGen
Ensembl
rs1446602870
CA400959627
566 N>K No ClinGen
gnomAD
rs1302818726
CA400959631
566 N>S No ClinGen
gnomAD
rs1302818726
CA400959632
566 N>T No ClinGen
gnomAD
rs537886018
CA293982503
568 P>S No ClinGen
1000Genomes
gnomAD
COSM1324863
rs373062583
CA8755562
569 T>M ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400959580
rs1389241970
570 D>A No ClinGen
gnomAD
CA400959578
rs1166466754
570 D>E No ClinGen
gnomAD
CA400959582
rs1389241970
570 D>G No ClinGen
gnomAD
CA8755561
rs757060881
571 P>L No ClinGen
ExAC
gnomAD
CA400959555
rs1482289001
572 P>R No ClinGen
gnomAD
CA400959561
rs1181238835
572 P>S No ClinGen
gnomAD
rs775625242
CA8755559
573 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA8755558
rs555020715
573 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs80198913
CA400959502
575 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1343358308
CA400959490
576 K>R No ClinGen
gnomAD
rs1227123329
CA400959470
577 A>D No ClinGen
TOPMed
gnomAD
rs1312574293
CA400959473
577 A>S No ClinGen
gnomAD
CA400959464
rs1227123329
577 A>V No ClinGen
TOPMed
gnomAD
CA400959418
rs755371574
580 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs752120081
CA8755554
580 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs755371574
CA8755555
580 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs931149328
CA293982464
581 R>C No ClinGen
TOPMed
gnomAD
CA8755553
rs766799178
581 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400959381
rs566625537
COSM1189561
582 R>L lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs566625537
CA8755551
582 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8755552
rs763442823
582 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA400959376
rs546418720
583 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200566258
CA8755548
583 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8755549
rs546418720
583 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA293982445
rs1055455758
585 P>R No ClinGen
TOPMed
gnomAD
rs768789919
CA8755547
586 E>A No ClinGen
ExAC
gnomAD
CA8755546
rs745739038
588 L>W No ClinGen
ExAC
gnomAD
rs774300343
CA8755545
589 S>C No ClinGen
ExAC
gnomAD
rs937030837
CA293982426
590 R>C No ClinGen
TOPMed
gnomAD
CA400959255
rs200408906
590 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8755544
rs200408906
590 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs571448769
CA8755542
591 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400959226
rs148634863
592 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1349368990
CA400959222
592 G>D No ClinGen
gnomAD
CA8755540
rs148634863
592 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8755539
rs780510478
593 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1411291378
CA400959194
594 Q>* No ClinGen
gnomAD
rs1396860532
CA400959186
594 Q>R No ClinGen
gnomAD
rs551459004
CA8755538
595 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs551459004
CA293982409
595 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA400959141
rs1351515970
596 G>A No ClinGen
gnomAD
CA400959154
rs1456251939
596 G>S No ClinGen
gnomAD
rs1218553527
CA400959136
597 T>A No ClinGen
TOPMed
CA8755537
rs751970514
597 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA8755536
rs7503661
598 S>F No ClinGen
ExAC
gnomAD
CA8755534
rs750806193
599 M>I No ClinGen
ExAC
gnomAD
rs1284701726
CA400959087
599 M>R No ClinGen
TOPMed
CA8755535
rs746908685
599 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs765766431
CA8755533
600 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA400959048
rs1218418914
601 G>C No ClinGen
TOPMed
CA293982387
rs953748091
601 G>D No ClinGen
Ensembl
rs1189823193
CA400959024
602 S>Y No ClinGen
gnomAD
CA8755532
rs776930389
603 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA400959011
rs1274306068
603 R>H No ClinGen
gnomAD
CA8755531
rs776930389
603 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA400958986
rs1327798081
604 P>L No ClinGen
gnomAD
rs764035824
CA8755530
604 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA400958983
rs531667788
605 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8755528
rs531667788
605 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1335968862
CA400958967
606 A>T No ClinGen
gnomAD
CA8755527
rs770839940
606 A>V No ClinGen
ExAC
CA400958932
rs1384826278
607 P>L No ClinGen
gnomAD
rs772922960
CA8755525
608 A>V No ClinGen
ExAC
gnomAD
CA293982367
rs562912019
610 P>S No ClinGen
1000Genomes
gnomAD
CA8755523
rs747706403
612 T>N No ClinGen
ExAC
CA8755522
rs780928180
614 K>E No ClinGen
ExAC
gnomAD
rs1377248368
CA400958805
615 T>A No ClinGen
gnomAD
CA293982352
rs1013861015
615 T>I No ClinGen
Ensembl
rs368285321
CA8755521
616 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1312318657
CA400958780
616 S>R No ClinGen
TOPMed
gnomAD
rs1463929896
CA400958736
620 T>A No ClinGen
gnomAD
CA8755519
rs143525855
620 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759642102
CA8755491
623 I>T No ClinGen
ExAC
gnomAD
CA8755490
rs751678393
625 K>R No ClinGen
ExAC
gnomAD
CA293982019
COSM1710768
rs779546960
628 E>K Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs779546960
CA400958588
628 E>Q No ClinGen
TOPMed
gnomAD
rs760349981
CA8755485
635 D>E No ClinGen
ExAC
gnomAD
rs137865978
CA8755487
635 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs137865978
CA8755486
635 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400958468
rs1204027814
636 G>A No ClinGen
gnomAD
rs745345962
CA8755482
639 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8755484
rs771673322
639 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8755481
rs773788807
644 E>Q No ClinGen
ExAC
gnomAD
rs1282403096
CA400958336
646 Q>H No ClinGen
TOPMed
gnomAD
CA400958311
rs1438485924
648 S>N No ClinGen
TOPMed
CA400958267
rs1235179653
COSM1710767
651 D>N skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs778140500
CA8755478
655 A>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 655 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8755477
rs756491284
656 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA8755456
rs528015473
660 S>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780126663
CA8755455
661 Q>K No ClinGen
ExAC
gnomAD
rs867630414
CA293981804
661 Q>R No ClinGen
Ensembl
rs1343236595
CA400958070
663 W>R No ClinGen
TOPMed
gnomAD
rs753773347
CA8755453
663 W>S No ClinGen
ExAC
gnomAD
CA400958016
rs1477946756
665 E>G No ClinGen
TOPMed
gnomAD
COSM138104
rs1442177468
CA400958025
665 E>K skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA400957977
rs1190473173
667 R>Q No ClinGen
TOPMed
gnomAD
CA8755452
rs200387698
667 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1318493748
CA400957960
668 R>Q No ClinGen
TOPMed
gnomAD
rs767421439
CA8755449
669 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs150241248
CA8755446
671 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370268612
CA8755445
672 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400957579
rs1389432953
672 S>P No ClinGen
gnomAD
rs760403394
CA293981755
673 S>L No ClinGen
Ensembl
CA400957566
rs1486853910
674 A>V No ClinGen
gnomAD
TCGA novel 675 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400957561
rs1242784595
675 S>N No ClinGen
gnomAD
CA400957553
rs1440900520
676 G>E No ClinGen
gnomAD
TCGA novel 676 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762375120
CA8755442
677 Q>* No ClinGen
ExAC
gnomAD
CA400957544
rs1180385469
677 Q>H No ClinGen
TOPMed
rs1341937808
CA400957521
680 P>L No ClinGen
gnomAD
rs1295983220
CA400957518
681 T>A No ClinGen
gnomAD
CA400957517
rs115082567
681 T>K No ClinGen
1000Genomes
TOPMed
gnomAD
CA293981739
COSM195227
rs115082567
681 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs1248743285
CA400957481
685 V>I No ClinGen
gnomAD
rs960907600
CA400957472
686 L>H No ClinGen
TOPMed
gnomAD
rs960907600
CA293981472
686 L>R No ClinGen
TOPMed
gnomAD
CA8755417
rs140618418
690 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1331934260
CA400957424
693 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs751298752
CA8755413
697 I>V No ClinGen
ExAC
gnomAD
CA400957395
rs757922429
698 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA8755411
rs757922429
698 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs143617157
CA8755412
698 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1320236704
CA400957389
699 R>K No ClinGen
gnomAD
CA400957383
rs1438631625
700 L>Q No ClinGen
gnomAD
rs750090436
CA8755410
700 L>V No ClinGen
ExAC
gnomAD
rs1567956262
CA400957374
702 Q>* No ClinGen
Ensembl
rs761346627
CA8755408
705 V>L No ClinGen
ExAC
gnomAD
CA400957346
rs1432627750
706 P>L No ClinGen
TOPMed
CA400957348
rs1432627750
706 P>Q No ClinGen
TOPMed
CA400957329
rs1362234650
709 E>Q No ClinGen
gnomAD
CA400957298
rs1156579590
713 I>F No ClinGen
TOPMed
rs1344441699
CA400957297
713 I>T No ClinGen
TOPMed
CA8755405
rs761306367
714 D>H No ClinGen
ExAC
rs1168435528
CA400957261
716 G>V No ClinGen
gnomAD
rs548529571
CA8755372
718 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA8755370
rs772025658
718 T>M No ClinGen
ExAC
gnomAD
rs772025658
CA8755371
718 T>R No ClinGen
ExAC
gnomAD
CA400957250
rs1256303613
719 D>N No ClinGen
TOPMed
gnomAD
CA400957247
rs1256303613
719 D>Y No ClinGen
TOPMed
gnomAD
CA8755368
rs371605312
724 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749002387
CA8755366
725 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs145666436
CA8755367
725 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400957074
rs1280811539
728 Q>R No ClinGen
TOPMed
gnomAD
rs1228198191
CA400957030
730 G>S No ClinGen
gnomAD
CA293981248
rs890443917
733 V>E No ClinGen
TOPMed
CA293981247
rs963418451
734 G>E No ClinGen
TOPMed
gnomAD
rs868029109
CA293981233
739 P>H No ClinGen
Ensembl
CA293981238
rs868523073
739 P>T No ClinGen
Ensembl
rs1598613479
CA400956856
740 H>P No ClinGen
Ensembl
CA8755362
rs768021294
742 I>S No ClinGen
ExAC
CA400956769
rs1279796422
744 I>T No ClinGen
TOPMed
rs1005451464
CA293981207
745 R>C No ClinGen
gnomAD
CA8755361
rs755556927
745 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA400956691
rs1169019654
749 A>T No ClinGen
gnomAD
rs1567955870
CA400956674
750 N>S No ClinGen
Ensembl
CA293981198
rs865947998
751 S>L No ClinGen
gnomAD
rs1282284795
CA400956653
752 G>S No ClinGen
TOPMed
rs139544359
CA8755360
753 T>S No ClinGen
ESP
ExAC
CA293981181
rs890665467
753 T>S No ClinGen
Ensembl
rs1257842709
CA400956617
755 M>L No ClinGen
gnomAD
CA400956619
rs1257842709
755 M>V No ClinGen
gnomAD
rs1180789030
CA400956596
756 W>L No ClinGen
TOPMed
gnomAD
rs868663975
CA293981152
COSM1385887
758 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA8755359
rs766916750
758 R>H No ClinGen
ExAC
gnomAD
rs766916750
CA400956566
758 R>L No ClinGen
ExAC
gnomAD
CA400956561
rs1334165290
759 T>A No ClinGen
gnomAD
CA400956551
rs1271347801
759 T>I No ClinGen
TOPMed
gnomAD
CA8755358
rs763253814
760 Y>C No ClinGen
ExAC
gnomAD
CA8755357
rs750705234
761 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA400956489
rs1337913814
762 W>* No ClinGen
gnomAD
rs1440406686
CA400956502
762 W>* No ClinGen
gnomAD
CA8755354
COSM3691785
rs776593846
764 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8755335
rs753885082
769 N>H No ClinGen
ExAC
gnomAD
CA293980813
rs752536528
769 N>K No ClinGen
Ensembl
CA400956204
rs1346197316
773 P>S No ClinGen
gnomAD
rs1235679948
CA400956184
774 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1361949793
CA400956146
775 W>* No ClinGen
gnomAD
rs144702303
COSM1385886
CA8755329
779 D>N large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400956047
rs1433804089
780 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8755325
rs780837039
784 E>Q No ClinGen
ExAC
gnomAD
CA8755324
rs768331307
785 I>V No ClinGen
ExAC
gnomAD
CA400955928
rs747486734
786 Q>* No ClinGen
ExAC
gnomAD
CA8755323
rs747486734
786 Q>E No ClinGen
ExAC
gnomAD
TCGA novel 786 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1476448415
CA400955923
786 Q>R No ClinGen
gnomAD
CA8755321
rs147346796
787 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8755322
rs780665652
787 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1598612691
CA400955895
788 V>G No ClinGen
Ensembl
rs1282911716
CA400955885
789 V>C No ClinGen
TOPMed
gnomAD

No associated diseases with Q8IV36

No regional properties for Q8IV36

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q8IV36

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Golgi apparatus membrane ; Lipid-anchor
  • Shuttles between the cytosol and the Golgi apparatus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic microtubule Any microtubule in the cytoplasm of a cell.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extrinsic component of Golgi membrane The component of a Golgi membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi medial cisterna The middle Golgi cisterna (or cisternae).
Golgi trans cisterna The Golgi cisterna farthest from the endoplasmic reticulum; the final processing compartment through which proteins pass before exiting the Golgi apparatus; the compartment in which N-linked protein glycosylation is completed.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8R1F6 Hid1 Protein HID1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MGSTDSKLNF RKAVIQLTTK TQPVEATDDA FWDQFWADTA TSVQDVFALV PAAEIRAVRE
70 80 90 100 110 120
ESPSNLATLC YKAVEKLVQG AESGCHSEKE KQIVLNCSRL LTRVLPYIFE DPDWRGFFWS
130 140 150 160 170 180
TVPGAGRGGQ GEEDDEHARP LAESLLLAIA DLLFCPDFTV QSHRRSTVDS AEDVHSLDSC
190 200 210 220 230 240
EYIWEAGVGF AHSPQPNYIH DMNRMELLKL LLTCFSEAMY LPPAPESGST NPWVQFFCST
250 260 270 280 290 300
ENRHALPLFT SLLNTVCAYD PVGYGIPYNH LLFSDYREPL VEEAAQVLIV TLDHDSASSA
310 320 330 340 350 360
SPTVDGTTTG TAMDDADPPG PENLFVNYLS RIHREEDFQF ILKGIARLLS NPLLQTYLPN
370 380 390 400 410 420
STKKIQFHQE LLVLFWKLCD FNKKFLFFVL KSSDVLDILV PILFFLNDAR ADQSRVGLMH
430 440 450 460 470 480
IGVFILLLLS GERNFGVRLN KPYSIRVPMD IPVFTGTHAD LLIVVFHKII TSGHQRLQPL
490 500 510 520 530 540
FDCLLTIVVN VSPYLKSLSM VTANKLLHLL EAFSTTWFLF SAAQNHHLVF FLLEVFNNII
550 560 570 580 590 600
QYQFDGNSNL VYAIIRKRSI FHQLANLPTD PPTIHKALQR RRRTPEPLSR TGSQEGTSME
610 620 630 640 650 660
GSRPAAPAEP GTLKTSLVAT PGIDKLTEKS QVSEDGTLRS LEPEPQQSLE DGSPAKGEPS
670 680 690 700 710 720
QAWREQRRPS TSSASGQWSP TPEWVLSWKS KLPLQTIMRL LQVLVPQVEK ICIDKGLTDE
730 740 750 760 770 780
SEILRFLQHG TLVGLLPVPH PILIRKYQAN SGTAMWFRTY MWGVIYLRNV DPPVWYDTDV
KLFEIQRV