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 Q5VYS4

Entry ID Method Resolution Chain Position Source
AF-Q5VYS4-F1 Predicted AlphaFoldDB

304 variants for Q5VYS4

Variant ID(s) Position Change Description Diseaes Association Provenance
CA387818393
rs964921245
2 A>E No ClinGen
gnomAD
rs964921245
CA247889754
2 A>G No ClinGen
gnomAD
rs776591666
CA6934906
2 A>T No ClinGen
ExAC
gnomAD
CA6934908
rs759626056
3 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs759626056
CA6934907
3 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA387818396
rs1234686895
3 G>R No ClinGen
gnomAD
CA6934910
rs761746695
4 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1466292541
CA387818400
4 A>T No ClinGen
gnomAD
rs761746695
CA387818404
4 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs750189432
CA6934912
5 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA247889755
rs750189432
5 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs200214346
CA6934913
6 C>W No ClinGen
ExAC
gnomAD
CA6934914
rs765998379
7 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA387818428
rs1203343233
8 P>L No ClinGen
TOPMed
rs1203343233
CA387818427
8 P>R No ClinGen
TOPMed
rs753349582
CA6934915
9 V>G No ClinGen
ExAC
gnomAD
CA387818439
rs1438066911
10 A>D No ClinGen
gnomAD
rs1221416232
CA387818434
10 A>T No ClinGen
TOPMed
CA387818450
rs1277004267
12 P>L No ClinGen
gnomAD
CA6934918
rs748624460
12 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1224684966
CA387818453
13 S>C No ClinGen
TOPMed
rs758899551
CA6934919
13 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA6934920
rs778021784
18 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA387818486
rs778021784
18 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA6934921
rs778021784
18 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1056580047
CA247889758
19 S>F No ClinGen
TOPMed
rs1231006195
CA387818494
20 G>E No ClinGen
gnomAD
rs771067374
CA6934922
20 G>R No ClinGen
ExAC
gnomAD
TCGA novel 20 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1469422752
CA387818497
21 E>K No ClinGen
gnomAD
rs776912049
CA387818506
22 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA6934923
rs776912049
22 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs71436423
CA6934924
23 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6934925
rs199670958
25 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1163609052
CA387818526
25 L>P No ClinGen
gnomAD
rs1390775495
CA387818533
26 W>* No ClinGen
gnomAD
CA387818530
rs1337045637
26 W>* No ClinGen
gnomAD
CA6934926
rs774468841
28 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA387818546
rs1326417936
28 C>Y No ClinGen
gnomAD
rs761869378
CA6934927
30 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA387818557
rs1593501069
30 C>S No ClinGen
Ensembl
rs904771005
CA247889759
31 E>A No ClinGen
TOPMed
rs767436094
CA6934928
31 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA387818586
rs760451601
35 L>M No ClinGen
ExAC
gnomAD
CA387818596
rs1269629919
36 P>L No ClinGen
TOPMed
rs1211910883
CA387818601
37 L>P No ClinGen
TOPMed
gnomAD
CA247889760
rs1044282570
38 A>V No ClinGen
Ensembl
CA387818608
rs1271138248
39 Q>E No ClinGen
TOPMed
gnomAD
rs1482812307
CA387818611
39 Q>R No ClinGen
gnomAD
CA387818626
rs759088171
42 R>C No ClinGen
ExAC
gnomAD
CA6934933
rs759088171
42 R>S No ClinGen
ExAC
gnomAD
rs764760167
CA6934934
43 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs752155046
CA387818646
45 P>L No ClinGen
ExAC
gnomAD
rs752155046
CA6934935
45 P>R No ClinGen
ExAC
gnomAD
CA387818648
rs1187097973
46 G>R No ClinGen
TOPMed
gnomAD
CA387818647
rs1187097973
46 G>S No ClinGen
TOPMed
gnomAD
rs758844060
CA387818665
48 F>L No ClinGen
ExAC
gnomAD
CA387818668
rs778279697
49 Q>* No ClinGen
ExAC
gnomAD
CA6934937
rs778279697
49 Q>E No ClinGen
ExAC
gnomAD
CA6934938
rs751939702
50 L>M No ClinGen
ExAC
gnomAD
rs757630646
CA6934939
51 S>G No ClinGen
ExAC
gnomAD
rs1376906195
CA387818687
52 G>C No ClinGen
TOPMed
gnomAD
CA387818686
rs1376906195
52 G>R No ClinGen
TOPMed
gnomAD
TCGA novel 52 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6934942
rs770099315
53 D>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 53 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6934940
rs200311232
53 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6934941
rs200311232
53 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA247889761
rs1047640126
54 Q>H No ClinGen
Ensembl
CA6934943
rs780299554
54 Q>L No ClinGen
ExAC
gnomAD
rs1341210773
CA387818704
55 L>F No ClinGen
gnomAD
rs749327526
CA6934944
56 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs749327526
CA387818708
56 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1206087428
CA387818720
58 A>S No ClinGen
gnomAD
CA6934945
rs9531945
VAR_030261
59 R>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1199858439
CA387818728
59 R>T No ClinGen
gnomAD
CA387818725
rs9531945
59 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773196246
CA6934946
60 P>A No ClinGen
ExAC
gnomAD
rs1425419597
CA387818735
60 P>L No ClinGen
gnomAD
rs760442815
CA6934947
CA6934948
61 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6934949
rs776372402
62 E>* No ClinGen
ExAC
gnomAD
rs764811845
CA6934951
62 E>G No ClinGen
ExAC
gnomAD
CA6934950
rs776372402
62 E>K No ClinGen
ExAC
gnomAD
CA387818745
rs1438427115
63 P>T No ClinGen
TOPMed
gnomAD
CA387818755
rs1263989582
64 A>G No ClinGen
TOPMed
rs1263989582
CA387818756
64 A>V No ClinGen
TOPMed
rs752208437
CA6934952
65 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM1198039
rs1037808910
CA247889764
66 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
CA387818768
rs1566124350
67 R>W No ClinGen
Ensembl
CA387818775
rs1316348116
68 G>E No ClinGen
gnomAD
rs764571813
CA6934957
68 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6934956
rs764571813
68 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs964600358
CA247889765
69 G>A No ClinGen
TOPMed
rs745558596 69 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs964600358
CA387818778
69 G>D No ClinGen
TOPMed
rs781711508
CA6934959
69 G>S No ClinGen
ExAC
gnomAD
CA387818793
rs756415719
71 N>K No ClinGen
ExAC
gnomAD
rs750765307
CA6934960
71 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA387818795
rs552682755
72 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs552682755
CA6934962
72 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA247889766
rs954836649
74 G>D No ClinGen
Ensembl
CA6934963
rs749394457
75 D>E No ClinGen
ExAC
gnomAD
CA247889767
rs999737739
75 D>V No ClinGen
TOPMed
gnomAD
rs564558992
CA6934964
76 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387818820
rs564558992
76 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs564558992
CA387818819
76 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA247889769
rs955749627
78 V>E No ClinGen
TOPMed
gnomAD
rs1031639600
CA247889768
78 V>L No ClinGen
TOPMed
gnomAD
rs1031639600
CA387818830
78 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA247889770
rs777619751
79 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs746999388
CA387818835
79 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs746999388
CA387818836
79 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs746999388
CA6934966
79 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA6934965
rs777619751
79 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs199746106
CA247889771
81 D>H No ClinGen
1000Genomes
gnomAD
CA387818854
rs1287608706
82 G>E No ClinGen
gnomAD
CA387818850
rs868081002
82 G>R No ClinGen
TOPMed
gnomAD
rs868081002
CA247889772
82 G>W No ClinGen
TOPMed
gnomAD
CA6934970
rs769506777
87 L>V No ClinGen
ExAC
gnomAD
CA387818908
rs1332938649
90 Y>C No ClinGen
TOPMed
gnomAD
rs1386379216
CA387818919
92 K>Q No ClinGen
gnomAD
CA387818930
rs1301758239
93 R>K No ClinGen
gnomAD
CA247385414
rs921517854
94 Y>H No ClinGen
TOPMed
rs1221919868
CA387697533
96 E>Q No ClinGen
gnomAD
rs1266840140
CA387697563
100 Y>C No ClinGen
gnomAD
rs371697036
CA6934991
101 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387697575
rs1180488971
102 D>H No ClinGen
gnomAD
rs1251485173
CA387697594
104 K>R No ClinGen
gnomAD
rs1184932153
CA387697604
105 D>E No ClinGen
gnomAD
rs773922479
CA6934992
105 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs761335981
CA6934993
106 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs768204734
CA6934994
107 R>K No ClinGen
ExAC
gnomAD
TCGA novel 108 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs150419121
CA247385421
109 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs150419121
CA6934995
109 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA247385425
rs200213117
110 I>M No ClinGen
gnomAD
rs140189386
CA6934997
110 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1411635739
CA387697637
111 L>* No ClinGen
gnomAD
rs951032321
CA247385427
114 P>A No ClinGen
TOPMed
gnomAD
CA6934998
rs754103414
114 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs951032321
CA387697659
114 P>T No ClinGen
TOPMed
gnomAD
CA387697676
rs1566127745
116 L>W No ClinGen
Ensembl
rs755243659
CA6934999
117 F>L No ClinGen
ExAC
gnomAD
CA6935002
rs765309979
123 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA387697738
rs1483574502
125 K>E No ClinGen
gnomAD
rs1418142218 126 D>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1186854344
CA387697745
126 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1004262664
CA247385436
127 T>N No ClinGen
Ensembl
rs759814885
CA6935019
130 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1236229765
CA387697772
130 E>K No ClinGen
gnomAD
CA6935021
rs138327988
132 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138327988
CA6935020
132 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6935024
rs751592813
134 A>T No ClinGen
ExAC
gnomAD
rs142057013
CA6935025
134 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 135 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6935027
rs753728863
135 F>L No ClinGen
ExAC
gnomAD
CA6935028
rs754712447
138 N>I No ClinGen
ExAC
gnomAD
rs754712447
CA387698213
138 N>S No ClinGen
ExAC
gnomAD
CA6935029
rs189649245
139 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1220367790
CA387698222
140 R>G No ClinGen
TOPMed
gnomAD
CA387698228
rs1297399843
140 R>S No ClinGen
Ensembl
CA6935031
rs771810248
144 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs777439221
CA6935032
145 R>G No ClinGen
ExAC
gnomAD
CA247386197
rs376611703
148 I>T No ClinGen
ESP
gnomAD
CA6935035
rs771537830
151 G>R No ClinGen
ExAC
gnomAD
rs776992738
CA6935037
153 D>A No ClinGen
ExAC
CA6935039
rs770026402
CA6935040
154 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs759998015
CA6935038
154 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA387698339
rs1456590434
156 I>M No ClinGen
TOPMed
gnomAD
CA387698337
rs1409672991
156 I>T No ClinGen
gnomAD
rs1566129066
COSM1740031
CA387698345
157 S>F haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
Ensembl
CA6935041
rs146990093
160 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6935043
rs147606667
165 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM946645
CA6935042
rs764239466
165 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1250857863
CA387698399
166 L>F No ClinGen
TOPMed
TCGA novel
CA387698409
rs1194708488
167 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
rs759414279
CA387698425
168 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA6935065
rs773303281
168 F>V No ClinGen
ExAC
gnomAD
CA6935066
rs759414279
168 F>Y No ClinGen
ExAC
TOPMed
gnomAD
CA387698466
rs1411054074
174 V>M No ClinGen
TOPMed
gnomAD
CA387698484
rs1440568514
176 N>S No ClinGen
gnomAD
rs1186253212
CA387698493
177 F>S No ClinGen
gnomAD
rs765200612
CA6935067
179 P>L No ClinGen
ExAC
gnomAD
CA6935069
rs758256977
180 P>A No ClinGen
ExAC
rs377025280
CA247386298
180 P>Q No ClinGen
ESP
gnomAD
rs1368498416 180 P>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 181 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6935075
rs780594359
187 G>R No ClinGen
ExAC
gnomAD
rs1356885842
CA387698655
191 S>N No ClinGen
TOPMed
COSM1322918
rs745329303
CA6935076
191 S>R ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA6935077
rs756580451
193 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA6935079
rs749708186
195 E>* No ClinGen
ExAC
gnomAD
rs768983578
CA6935080
198 A>T No ClinGen
ExAC
gnomAD
CA387698782
rs1342822173
200 A>E No ClinGen
gnomAD
CA387698828
rs1166707987
204 F>I No ClinGen
TOPMed
rs774594489
CA6935081
204 F>L No ClinGen
ExAC
gnomAD
CA6935082
rs150178788
206 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387698881
rs1186357568
208 F>L No ClinGen
TOPMed
gnomAD
CA387698882
rs1186357568
208 F>V No ClinGen
TOPMed
gnomAD
CA387698898
rs1449640706
209 G>W No ClinGen
gnomAD
rs773177464
CA6935084
212 N>H No ClinGen
ExAC
gnomAD
rs147350400
CA6935085
213 S>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6935088
rs762883125
214 V>A No ClinGen
ExAC
gnomAD
rs149352249
CA387698962
214 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6935087
rs149352249
214 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374109967
CA6935089
215 V>A No ClinGen
ESP
ExAC
gnomAD
CA387698969
rs1566129358
215 V>I No ClinGen
Ensembl
CA6935090
rs751322843
217 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs756878254
CA6935091
218 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1310195345
CA387699058
221 V>I No ClinGen
gnomAD
CA247386325
rs943025022
224 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs767135524
CA6935092
226 S>G No ClinGen
ExAC
gnomAD
CA6935093
rs749965380
226 S>N No ClinGen
ExAC
gnomAD
rs1206300565
CA387699136
227 T>I No ClinGen
TOPMed
gnomAD
rs1206300565
CA387699134
227 T>R No ClinGen
TOPMed
gnomAD
rs1281000535
CA387699151
228 S>N No ClinGen
TOPMed
rs576074999
CA6935094
229 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA387699192
rs1593511489
231 K>E No ClinGen
Ensembl
TCGA novel 231 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1187877068
CA387699210
232 K>E No ClinGen
gnomAD
rs955299409
CA247386331
233 E>K No ClinGen
TOPMed
CA387699243
rs1431795181
234 T>A No ClinGen
gnomAD
CA6935096
rs780585256
234 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA247386340
rs963945772
235 I>M No ClinGen
TOPMed
CA6935098
rs754308782
235 I>N No ClinGen
ExAC
gnomAD
CA247386336
rs911052266
235 I>V No ClinGen
TOPMed
gnomAD
rs755436482
CA6935099
236 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA387699254
rs1387958390
236 K>T No ClinGen
gnomAD
CA247386344
rs536772013
237 L>F No ClinGen
1000Genomes
CA387699274
rs1490739359
239 L>P No ClinGen
TOPMed
gnomAD
rs138341583
CA6935100
239 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
rs748486713
CA6935102
242 M>I No ClinGen
ExAC
gnomAD
rs753872842 242 M>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA387699311
rs1179230273
243 S>N No ClinGen
TOPMed
TCGA novel 244 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6935103
rs772250763
245 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA387699332
rs772250763
245 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs974214495
CA247386353
246 L>V No ClinGen
TOPMed
gnomAD
CA6935104
rs142828800
247 I>T No ClinGen
ESP
ExAC
gnomAD
CA6935105
rs747109926
248 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1490977908
CA387699376
249 R>K No ClinGen
TOPMed
CA6935107
CA6935106
rs555397627
250 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387699414
rs1329217501
251 S>G No ClinGen
gnomAD
TCGA novel 252 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372086987
CA6935108
253 S>T No ClinGen
ESP
ExAC
gnomAD
CA247386363
rs902328285
254 D>G No ClinGen
gnomAD
CA6935109
rs768660202
254 D>N No ClinGen
ExAC
TOPMed
CA387699460
rs768660202
254 D>Y No ClinGen
ExAC
TOPMed
CA6935110
rs376683172
255 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761660083
CA6935111
255 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA387699525
rs181484496
258 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs181484496
CA6935114
258 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs573642481
CA6935113
258 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1309306956
CA387699530
259 V>I No ClinGen
Ensembl
CA387699572
rs1593511644
261 S>C No ClinGen
Ensembl
rs1367681192
CA387699593
262 R>S No ClinGen
gnomAD
CA6935140
rs758793268
266 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA6935139
COSM946648
rs758793268
266 D>Y Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751918546
CA6935142
267 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA387700198
rs1298349879
267 D>G No ClinGen
TOPMed
CA387700216
rs1166287390
268 V>G No ClinGen
TOPMed
CA387700203
rs1352444923
268 V>I No ClinGen
TOPMed
CA387700224
rs1475282812
269 F>C No ClinGen
TOPMed
CA387700218
rs757561985
269 F>L No ClinGen
ExAC
gnomAD
CA6935147
rs781564848
269 F>L No ClinGen
ExAC
rs757561985
CA6935144
269 F>V No ClinGen
ExAC
gnomAD
rs745999526
CA6935148
270 N>I No ClinGen
ExAC
gnomAD
CA697240863
rs1416990311
270 N>R No ClinGen
TOPMed
CA6935149
rs756193550
271 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs756193550
CA6935150
271 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA387700244
rs1195047190
271 C>Y No ClinGen
TOPMed
rs146086897
CA247386881
272 N>D No ClinGen
ESP
CA6935151
rs748145597
272 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs760973126
CA247386884
273 L>P No ClinGen
TOPMed
gnomAD
CA387700287
rs1593513586
275 P>L No ClinGen
Ensembl
rs1173712726
CA387700282
275 P>T No ClinGen
gnomAD
CA387700288
rs1358147873
276 R>G No ClinGen
gnomAD
CA387700291
rs1469991374
276 R>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA247386887
rs992261307
277 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1335558124
CA387700318
279 L>P No ClinGen
TOPMed
CA6935152
rs771854199
281 E>Q No ClinGen
ExAC
gnomAD
CA6935153
rs773002689
283 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 283 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1270083529
CA387700382
284 L>S No ClinGen
gnomAD
CA6935154
rs746739528
284 L>V No ClinGen
ExAC
gnomAD
rs1363292956
CA387700399
285 A>V No ClinGen
gnomAD
CA6935156
rs776243503
286 E>* No ClinGen
ExAC
gnomAD
TCGA novel 287 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6935158
rs764835720
288 P>L No ClinGen
ExAC
gnomAD
CA387700442
rs764835720
288 P>R No ClinGen
ExAC
gnomAD
CA6935159
rs774815996
289 F>L No ClinGen
ExAC
gnomAD
TCGA novel 290 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763531328
CA6935160
291 S>G No ClinGen
ExAC
gnomAD
CA6935161
rs764445175
292 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA6935162
rs373323371
296 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 297 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1242575063
CA387700583
297 E>K No ClinGen
gnomAD
rs1476355000
CA387700618
298 T>I No ClinGen
gnomAD
rs1424189479
CA387700628
299 P>R No ClinGen
gnomAD
rs1470169512
CA387700644
300 N>K No ClinGen
gnomAD
CA387700637
rs1168153693
300 N>S No ClinGen
gnomAD
rs1451894286
CA387700661
301 Q>H No ClinGen
Ensembl
CA387700646
rs1293477486
301 Q>K No ClinGen
Ensembl
TCGA novel
rs1178104641
CA387700708
304 I>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD

No associated diseases with Q5VYS4

No regional properties for Q5VYS4

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q5VYS4

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name Definition
positive regulation of fat cell differentiation Any process that activates or increases the frequency, rate or extent of adipocyte differentiation.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A4IFN2 MEDAG Mesenteric estrogen-dependent adipogenesis protein Bos taurus (Bovine) PR
Q14BA6 Medag Mesenteric estrogen-dependent adipogenesis protein Mus musculus (Mouse) PR
10 20 30 40 50 60
MAGAACEPVA RPSLTSISSG ELRSLWTCDC ELALLPLAQL LRLQPGAFQL SGDQLVVARP
70 80 90 100 110 120
GEPAAARGGF NVFGDGLVRL DGQLYRLSSY IKRYVELTNY CDYKDYRETI LSKPMLFFIN
130 140 150 160 170 180
VQTKKDTSKE RTYAFLVNTR HPKIRRQIEQ GMDMVISSVI GESYRLQFDF QEAVKNFFPP
190 200 210 220 230 240
GNEVVNGENL SFAYEFKADA LFDFFYWFGL SNSVVKVNGK VLNLSSTSPE KKETIKLFLE
250 260 270 280 290 300
KMSEPLIRRS SFSDRKFSVT SRGSIDDVFN CNLSPRSSLT EPLLAELPFP SVLESEETPN
QFI