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 Q8WV83

Entry ID Method Resolution Chain Position Source
AF-Q8WV83-F1 Predicted AlphaFoldDB

403 variants for Q8WV83

Variant ID(s) Position Change Description Diseaes Association Provenance
rs993440126
CA53769241
3 P>R No ClinGen
TOPMed
gnomAD
rs1259863213
CA348322750
4 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs754749282
CA53769226
6 R>C No ClinGen
Ensembl
rs1458361319
CA348322739
6 R>H No ClinGen
TOPMed
gnomAD
rs1458361319
CA348322737
6 R>L No ClinGen
TOPMed
gnomAD
CA348322732
rs1367133870
7 H>R No ClinGen
gnomAD
rs1166480520
CA348322723
8 R>H No ClinGen
gnomAD
rs866739866
CA53769217
9 G>W No ClinGen
Ensembl
CA348322715
rs1448709483
10 A>S No ClinGen
gnomAD
CA1842321
rs747889243
10 A>V No ClinGen
ExAC
gnomAD
CA1842320
rs776157522
11 G>E No ClinGen
ExAC
gnomAD
rs768142063
CA1842319
12 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs768142063
CA53769204
12 R>M No ClinGen
ExAC
TOPMed
gnomAD
CA348322704
CA53769187
rs866291136
12 R>S No ClinGen
gnomAD
rs771560952
CA1842299
14 G>E No ClinGen
ExAC
gnomAD
CA1842297
rs778071602
15 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA53768636
rs778071602
15 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs368464948
CA1842295
17 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1842296
rs368464948
17 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781451090
CA1842294
20 P>L No ClinGen
ExAC
gnomAD
CA348322585
rs1368280063
21 P>L No ClinGen
gnomAD
CA53768616
TCGA novel
rs755230058
22 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
CA1842292
rs751631370
23 R>S No ClinGen
ExAC
TOPMed
CA53768610
rs1023368383
25 R>* No ClinGen
Ensembl
rs766499217
CA1842291
25 R>I No ClinGen
ExAC
gnomAD
rs758486121
CA1842290
26 S>C No ClinGen
ExAC
gnomAD
CA1842289
rs750307878
28 K>Q No ClinGen
ExAC
gnomAD
CA1842288
rs180746065
28 K>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200368608
CA1842287
29 F>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs867595280
CA53768572
31 G>D No ClinGen
TOPMed
gnomAD
rs375731808
CA1842286
31 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348322527
rs867595280
31 G>V No ClinGen
TOPMed
gnomAD
CA1842284
rs577560893
32 I>L No ClinGen
1000Genomes
ExAC
gnomAD
rs577560893
CA348322526
32 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA53768546
rs373231334
33 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
CA1842282
rs771654867
35 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs758976655
CA1842281
37 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA53768540
rs113680446
37 L>H No ClinGen
gnomAD
CA348322492
rs113680446
37 L>P No ClinGen
gnomAD
CA348322473
rs1467658680
40 A>D No ClinGen
TOPMed
rs770227498
CA1842279
42 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs748511456
CA1842278
43 T>S No ClinGen
ExAC
gnomAD
rs781600606
CA1842277
44 R>K No ClinGen
ExAC
gnomAD
rs777862070
CA348322428
46 Q>* No ClinGen
ExAC
gnomAD
CA1842249
rs777862070
46 Q>E No ClinGen
ExAC
gnomAD
CA1842246
rs190986421
47 M>L No ClinGen
1000Genomes
ExAC
gnomAD
CA1842245
rs754651084
47 M>T No ClinGen
ExAC
gnomAD
CA1842247
rs190986421
47 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs995624580
CA348322415
COSM1185983
48 V>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs995624580
CA53768221
48 V>M No ClinGen
TOPMed
gnomAD
rs751063460
CA1842244
49 C>Y No ClinGen
ExAC
gnomAD
rs143143202
CA1842243
50 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1842242
rs762525763
51 F>L No ClinGen
ExAC
gnomAD
rs201324940
CA53768211
52 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201324940
CA1842241
52 V>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA348322387
rs201703620
53 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201703620
CA1842239
53 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775870472
CA348322368
55 R>L No ClinGen
ExAC
gnomAD
rs775870472
CA1842238
55 R>Q No ClinGen
ExAC
gnomAD
CA53768200
rs912536506
56 M>V No ClinGen
gnomAD
rs1397190432
CA348322353
57 N>K No ClinGen
TOPMed
rs1234776215
CA348322355
57 N>S No ClinGen
gnomAD
rs1208308821
CA348322339
59 Q>H No ClinGen
gnomAD
CA53768196
rs928763263
62 G>S No ClinGen
TOPMed
CA1842236
rs111569665
64 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs111569665
CA1842235
64 T>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 65 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1842234
rs770852991
68 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA348322270
rs1574280089
70 A>T No ClinGen
Ensembl
CA1842233
rs749413468
70 A>V No ClinGen
ExAC
gnomAD
rs748206952
CA1842232
74 V>A No ClinGen
ExAC
gnomAD
rs1451482651
CA348322246
74 V>I No ClinGen
gnomAD
CA1842230
rs747948946
75 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs756172527
CA1842231
75 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1574280010
CA348322223
78 L>F No ClinGen
Ensembl
CA348322221
rs1251212759
78 L>P No ClinGen
TOPMed
rs1159780832
CA348322208
80 D>V No ClinGen
gnomAD
rs970005330
CA53768150
81 V>M No ClinGen
TOPMed
rs1207724157
COSM714679
CA348322200
82 I>V lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA1842225
rs754811607
83 W>C No ClinGen
ExAC
gnomAD
CA1842226
rs780904923
83 W>L No ClinGen
ExAC
gnomAD
CA348322186
rs1255862843
84 V>I No ClinGen
TOPMed
CA1842224
rs186083549
85 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs531095565
CA1842223
86 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA348322167
rs1415994938
87 S>Y No ClinGen
TOPMed
rs1335220758
CA348322164
COSM441026
88 E>K Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA348322145
rs1294957195
90 T>I No ClinGen
TOPMed
gnomAD
CA1842222
rs757797501
91 S>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 92 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348322116
rs1225740105
93 V>A No ClinGen
gnomAD
rs778454228
CA1842203
93 V>I No ClinGen
ExAC
gnomAD
CA348322103
rs1295666922
95 T>I No ClinGen
TOPMed
gnomAD
CA348322091
rs1559363978
97 Y>H No ClinGen
Ensembl
rs143352356
CA1842202
98 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1302516663
CA348322067
100 P>S No ClinGen
gnomAD
CA348322053
rs1574270877
102 F>I No ClinGen
Ensembl
rs796152865
CA53766064
104 T>A No ClinGen
gnomAD
rs759775573
CA1842199
107 K>E No ClinGen
ExAC
gnomAD
rs759775573
CA53766061
107 K>Q No ClinGen
ExAC
gnomAD
CA348322013
rs1299522740
108 T>A No ClinGen
TOPMed
CA1842196
rs763321727
110 M>T No ClinGen
ExAC
gnomAD
rs766483024
CA1842197
110 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1265832767
CA348321984
112 V>A No ClinGen
TOPMed
gnomAD
rs1265832767
CA348321982
112 V>G No ClinGen
TOPMed
gnomAD
rs769924613
CA1842194
114 Y>C No ClinGen
ExAC
gnomAD
rs1221298649
CA348321956
116 L>F No ClinGen
TOPMed
CA1842193
rs762012252
119 I>T No ClinGen
ExAC
gnomAD
rs1488097560
CA348321903
124 W>R No ClinGen
TOPMed
rs1228946220
CA348321847
131 G>A No ClinGen
gnomAD
COSM1005734
CA1842190
rs184692931
133 R>C large_intestine endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1842189
rs556190555
133 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs184692931
CA348321838
133 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375944618
CA1842187
134 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1559363591
CA348321821
136 H>D No ClinGen
Ensembl
rs1390668273
CA348321819
136 H>P No ClinGen
gnomAD
CA348321818
rs1390668273
136 H>R No ClinGen
gnomAD
rs1395997952
CA348321807
138 A>P No ClinGen
gnomAD
CA1842185
rs778542123
138 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs756717732
CA1842184
139 F>I No ClinGen
ExAC
TOPMed
gnomAD
rs976137726
CA53763870
140 F>L No ClinGen
TOPMed
gnomAD
rs370045540
CA348321776
141 A>S No ClinGen
ESP
ExAC
gnomAD
rs370045540
CA1842157
141 A>T No ClinGen
ESP
ExAC
gnomAD
rs765524202
CA1842156
142 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA348321767
rs1266128303
142 D>V No ClinGen
gnomAD
CA348321754
rs1351059508
144 E>V No ClinGen
gnomAD
rs1559357689
CA348321729
148 A>T No ClinGen
Ensembl
rs376438996
CA1842154
149 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376438996
CA1842153
149 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1314690806
CA348321707
151 T>I No ClinGen
gnomAD
rs976750985
CA53763799
153 D>A No ClinGen
TOPMed
CA1842151
rs760677524
154 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1842150
rs147851917
154 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147851917
CA348321689
154 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs767465877
CA1842149
156 M>V No ClinGen
ExAC
gnomAD
rs1168644855
CA348321673
157 N>D No ClinGen
TOPMed
rs1559357534
CA348321653
159 S>F No ClinGen
Ensembl
rs1018489686
CA53763770
160 L>S No ClinGen
TOPMed
gnomAD
CA348321628
rs1423072415
161 S>R No ClinGen
gnomAD
CA1842134
rs764255442
163 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1559353989
CA348321617
163 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs764255442
CA53762193
163 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs769700552
CA53762175
166 V>A No ClinGen
Ensembl
rs1451612481
CA348321599
166 V>M No ClinGen
TOPMed
gnomAD
rs377392317
CA1842132
171 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767414905
CA1842130
172 D>G No ClinGen
ExAC
gnomAD
CA348321561
rs1231351785
172 D>N No ClinGen
TOPMed
rs767414905
CA348321557
172 D>V No ClinGen
ExAC
gnomAD
CA348321538
rs1559353868
175 S>T No ClinGen
Ensembl
rs759539558
CA1842129
176 E>G No ClinGen
ExAC
gnomAD
CA1842128
rs774122553
178 P>L No ClinGen
ExAC
gnomAD
rs1197229396
CA348321501
180 S>I No ClinGen
gnomAD
CA1842126
rs545001610
183 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA1842127
rs766127685
183 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs373074565
CA1842125
185 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA348321449
rs1187962394
188 T>A No ClinGen
gnomAD
rs139852762
CA53761476
188 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139852762
CA1842108
188 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs573518732
CA53761473
189 P>A No ClinGen
1000Genomes
CA1842107
rs750222499
189 P>L No ClinGen
ExAC
gnomAD
rs764937717
CA1842106
190 K>R No ClinGen
ExAC
gnomAD
TCGA novel 192 S>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761613867
CA1842105
193 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1842104
rs776435612
193 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA53761453
rs776435612
193 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs947208204
CA53761439
194 V>M No ClinGen
TOPMed
CA53761404
rs938619924
197 S>R No ClinGen
Ensembl
rs774872803
CA1842101
198 N>D No ClinGen
ExAC
gnomAD
CA348321377
rs908499067
198 N>I No ClinGen
TOPMed
gnomAD
CA53761380
rs908499067
198 N>S No ClinGen
TOPMed
gnomAD
rs200273801
CA1842100
199 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs778068628
CA1842098
200 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1240306841
CA348321354
201 E>D No ClinGen
gnomAD
CA348321344
rs1201832503
203 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA348321345
rs1201832503
203 R>G No ClinGen
TOPMed
gnomAD
rs1460946211
CA348321343
203 R>Q No ClinGen
gnomAD
rs1264259641
CA348321335
204 Q>L No ClinGen
gnomAD
CA53761359
rs989985832
205 L>F No ClinGen
TOPMed
CA1842097
rs149790536
206 P>L No ClinGen
ESP
ExAC
gnomAD
rs149790536
CA348321324
206 P>Q No ClinGen
ESP
ExAC
gnomAD
rs781420683
CA1842095
207 S>P No ClinGen
ExAC
TCGA novel 208 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1046913523
CA53761309
209 H>Q No ClinGen
TOPMed
gnomAD
rs923962780
CA53761316
209 H>Y No ClinGen
TOPMed
gnomAD
CA348321287
rs1381396180
211 L>W No ClinGen
TOPMed
TCGA novel 214 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348321251
rs1296040110
214 K>Q No ClinGen
TOPMed
rs779462853
CA53761286
216 S>T No ClinGen
Ensembl
CA348321203
rs1390434611
217 R>C No ClinGen
TOPMed
gnomAD
CA1842093
rs751684782
217 R>H No ClinGen
ExAC
gnomAD
CA348321197
rs751684782
217 R>L No ClinGen
ExAC
gnomAD
rs1344609876
CA348321178
COSM569335
218 M>I lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs750217904
CA1842090
218 M>T No ClinGen
ExAC
gnomAD
rs758333293
CA1842091
218 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA1842089
rs764882352
221 P>L No ClinGen
ExAC
gnomAD
rs1159526805
CA348321144
221 P>T No ClinGen
TOPMed
gnomAD
rs368083148
CA1842086
223 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA53761175
rs150656361
224 E>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1842085
rs150656361
224 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1842084
rs774904158
225 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs771468412
CA1842083
225 Q>P No ClinGen
ExAC
gnomAD
rs1260693096
CA348321070
226 E>* No ClinGen
gnomAD
TCGA novel 228 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1289086996
CA348321035
228 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs763431237
CA1842082
228 I>T No ClinGen
ExAC
gnomAD
CA53761144
rs964012277
228 I>V No ClinGen
gnomAD
rs773787189
CA1842081
229 L>M No ClinGen
ExAC
gnomAD
rs748530443
CA1842079
232 V>A No ClinGen
ExAC
gnomAD
CA1842078
rs776807826
233 G>R No ClinGen
ExAC
rs986908406
CA53761117
235 L>F No ClinGen
Ensembl
CA1842076
rs747084469
237 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs780054626
CA1842075
241 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 244 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778939844
CA53761094
245 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs778939844
CA1842072
245 F>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1206966623
CA348320793
246 F>L No ClinGen
gnomAD
rs577214214 247 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 247 F>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs577214214 248 C>A Variant assessed as Somatic; 0.006786 impact. [NCI-TCGA] No NCI-TCGA
rs1402692634
CA348320747
248 C>F No ClinGen
TOPMed
CA348320755
rs1424249573
248 C>G No ClinGen
TOPMed
gnomAD
rs1166961167
CA348320712
250 V>A No ClinGen
gnomAD
rs1211240737
CA348320715
250 V>L No ClinGen
gnomAD
CA348319570
rs1187466058
251 W>C No ClinGen
TOPMed
CA348319500
rs1412001854
256 L>F No ClinGen
gnomAD
CA348319492
rs1490623233
257 S>* No ClinGen
gnomAD
CA348319482
rs1193722870
258 Y>S No ClinGen
gnomAD
rs778972826
CA1842052
259 Q>* No ClinGen
ExAC
gnomAD
CA1842049
rs576219497
259 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs757302465
CA1842051
259 Q>R No ClinGen
ExAC
gnomAD
CA348319448
rs1376409842
261 A>T No ClinGen
TOPMed
rs755987979
CA1842048
264 D>G No ClinGen
ExAC
gnomAD
rs1469698787
CA348319411
264 D>N No ClinGen
TOPMed
CA1842047
rs752229613
265 T>I No ClinGen
ExAC
rs767233933
CA1842046
267 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs141432650
CA1842045
269 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA53756822
RCV000958569
CA1842044
rs148152519
273 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinVar
dbSNP
rs765726843
CA1842043
274 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA348319237
rs1362999771
276 T>I No ClinGen
TOPMed
rs754355533
CA1842041
278 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 279 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348318848
rs1574242545
281 T>P No ClinGen
Ensembl
rs1241997234
CA348318832
283 I>N No ClinGen
TOPMed
gnomAD
TCGA novel 284 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1842025
rs757906828
284 L>P No ClinGen
ExAC
gnomAD
rs1392298538
CA348318819
285 A>G No ClinGen
TOPMed
CA53756323
rs928321119
288 F>L No ClinGen
TOPMed
rs754302593
CA1842024
288 F>Y No ClinGen
ExAC
gnomAD
rs144617050
CA1842023
290 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760926158
CA1842022
290 S>N No ClinGen
ExAC
gnomAD
rs753146033
CA1842021
291 N>S No ClinGen
ExAC
gnomAD
rs943696639
CA53756315
293 G>R No ClinGen
Ensembl
rs1385069553
CA348318765
294 D>N No ClinGen
TOPMed
CA348318762
rs1242605342
294 D>V No ClinGen
gnomAD
rs766518973
CA53756314
295 R>G No ClinGen
Ensembl
CA348318740
rs1250663545
297 T>I No ClinGen
TOPMed
CA1842020
rs767630923
298 L>F No ClinGen
ExAC
gnomAD
TCGA novel 298 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771070381
CA1842017
302 L>* No ClinGen
ExAC
gnomAD
rs763160674
CA1842016
303 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA1841982
rs748623963
308 I>T No ClinGen
ExAC
gnomAD
rs1401661643
CA348318459
310 G>S No ClinGen
TOPMed
CA348318441
rs1312183846
311 V>I No ClinGen
gnomAD
rs1017056763
CA1841978
312 V>I No ClinGen
TOPMed
rs1017056763
CA53754856
312 V>L No ClinGen
TOPMed
rs1257172496
CA348318403
313 L>P No ClinGen
TOPMed
CA348318365
rs1350875403
316 L>M No ClinGen
TOPMed
rs752023112
CA1841977
317 A>S No ClinGen
ExAC
gnomAD
CA53754845
rs202119434
318 G>R No ClinGen
gnomAD
CA1841975
rs149050681
322 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750620734
CA348318255
323 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs750620734
CA1841974
323 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs765291977
CA53754841
325 R>I No ClinGen
ExAC
gnomAD
CA1841973
rs765291977
325 R>K No ClinGen
ExAC
gnomAD
CA348318191
rs954097624
327 T>A No ClinGen
gnomAD
rs954097624
CA53754840
327 T>S No ClinGen
gnomAD
TCGA novel 328 V>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1359735479
CA348318177
328 V>I No ClinGen
gnomAD
TCGA novel 328 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 329 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1014373410
CA53754836
329 G>S No ClinGen
TOPMed
rs1159094412
CA348317669
331 I>V No ClinGen
gnomAD
CA1841962
rs748773975
335 A>V No ClinGen
ExAC
gnomAD
CA348317566
rs1423345069
337 A>V No ClinGen
TOPMed
gnomAD
CA348317546
rs1485063307
COSM475800
338 M>I kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
rs755585788
CA1841960
338 M>T No ClinGen
ExAC
gnomAD
rs780505874
CA1841958
340 Y>C No ClinGen
ExAC
gnomAD
rs1406810776
CA348317501
341 A>T No ClinGen
gnomAD
TCGA novel 343 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1841956
rs563554604
346 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs199593131
CA1841957
346 M>V No ClinGen
ExAC
gnomAD
rs543787347
CA1841955
351 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs757337626
CA53750978
353 R>G No ClinGen
ExAC
gnomAD
rs1298555879
CA348317279
354 E>D No ClinGen
TOPMed
gnomAD
rs753904064
CA1841953
355 D>N No ClinGen
ExAC
gnomAD
rs1034807276
CA53750966
357 L>S No ClinGen
TOPMed
rs951884257
CA53750963
359 I>S No ClinGen
Ensembl
rs753184039
CA53750952
361 M>K No ClinGen
TOPMed
gnomAD
rs760664006
CA1841951
361 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs574675394
CA1841950
362 F>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA53750943
rs921653092
364 G>R No ClinGen
Ensembl
rs1559328981
CA348316793
366 V>I No ClinGen
Ensembl
CA348316746
rs1283997587
373 L>F No ClinGen
TOPMed
CA1841931
rs756192632
373 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA348316744
rs756192632
373 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA53749166
rs140295335
376 P>L No ClinGen
ESP
TOPMed
gnomAD
rs1174926507
CA348316719
377 G>D No ClinGen
gnomAD
rs1206620618
CA348316722
377 G>S No ClinGen
TOPMed
rs767467816
CA1841929
380 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA1841928
rs556890812
381 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs751354231
CA1841927
383 Y>C No ClinGen
ExAC
gnomAD
CA1841925
rs762451375
390 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1024035038
CA53749116
393 N>S No ClinGen
TOPMed
rs375146485
CA53749115
394 K>Q No ClinGen
ESP
TOPMed
rs371730492
CA1841923
394 K>R No ClinGen
ESP
ExAC
gnomAD
rs1303705126
CA348316542
395 V>I No ClinGen
gnomAD
rs1180511334
CA348316520
396 V>I No ClinGen
TOPMed
CA1841920
rs374406239
398 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1841921
rs147832436
398 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs112949097
CA348316454
399 C>F No ClinGen
TOPMed
rs112949097
CA53749078
399 C>Y No ClinGen
TOPMed
rs771341572
CA1841917
406 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA53749073
rs1012163792
409 V>A No ClinGen
Ensembl
TCGA novel 412 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348316350
rs1238236168
412 E>D No ClinGen
gnomAD
rs1438483695
CA348316357
412 E>K No ClinGen
gnomAD
CA348316318
rs1559328522
417 W>* No ClinGen
Ensembl
rs76954285
CA53749065
417 W>G No ClinGen
Ensembl
CA1841897
rs768064286
418 G>D No ClinGen
ExAC
gnomAD
CA53747580
rs768064286
418 G>V No ClinGen
ExAC
gnomAD
CA348316071
rs1284066393
419 C>W No ClinGen
gnomAD
rs1354343455
CA348316079
419 C>Y No ClinGen
gnomAD
rs1246151414
CA348316008
423 S>L No ClinGen
gnomAD
rs1275367057
CA348315994
425 L>F No ClinGen
TOPMed
gnomAD
rs771150964
CA1841894
427 G>D No ClinGen
ExAC
gnomAD
rs1360708570
CA348315975
428 T>I No ClinGen
gnomAD
CA348315924
rs773389335
432 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA348315920
rs1171930420
433 L>F No ClinGen
TOPMed
CA1841888
rs755102738
439 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1841889
rs781312270
439 I>V No ClinGen
ExAC
gnomAD
CA53747477
rs370710490
440 I>T No ClinGen
TOPMed
gnomAD
rs145385669
CA1841887
440 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1333975005
CA348315793
442 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1841886
rs780074724
443 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1218234940
CA348315771
443 M>T No ClinGen
gnomAD
rs932719514
CA53747454
444 C>F No ClinGen
gnomAD
rs932719514
CA348315749
444 C>Y No ClinGen
gnomAD
CA1841884
CA348315720
rs566227182
445 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA1841885
rs758100032
445 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA348315133
rs1330172075
448 V>M No ClinGen
gnomAD
CA348315127
rs1402425696
449 Q>K No ClinGen
gnomAD
rs755545858
CA1841861
452 W>* No ClinGen
ExAC
gnomAD
CA1841860
rs752297899
456 A>V No ClinGen
ExAC
gnomAD
rs1178177321
CA348315056
458 A>V No ClinGen
gnomAD
rs1559319486
CA348315051
459 I>T No ClinGen
Ensembl
CA53744832
rs866760429
460 P>L No ClinGen
Ensembl
CA348315047
rs1235125075
460 P>T No ClinGen
gnomAD
TCGA novel 462 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763515566
CA1841858
462 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA1841856
rs146995908
463 F>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1669228
CA1841857
rs146995908
463 F>S lung central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1559319402
CA348315019
464 S>L No ClinGen
Ensembl
rs1559319362
CA348315000
467 I>F No ClinGen
Ensembl
rs1574212571
CA348314996
467 I>M No ClinGen
Ensembl
CA348314978
rs1290786498
469 T>P No ClinGen
TOPMed
rs755788907
CA53744823
470 L>F No ClinGen
Ensembl
CA348314923
rs1172510838
472 C>F No ClinGen
TOPMed
gnomAD
CA1841850
rs200760670
473 H>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 474 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1841849
rs760659361
475 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 477 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766954729
CA53744805
480 V>L No ClinGen
ExAC
gnomAD
rs766954729
CA1841848
480 V>M No ClinGen
ExAC
gnomAD
TCGA novel 482 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA53744794
rs772282686
482 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs772282686
CA1841847
482 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA1841846
rs745742104
484 I>V No ClinGen
ExAC
gnomAD
TCGA novel 486 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770808675
CA1841844
492 C>F No ClinGen
ExAC
gnomAD
rs1158074157
CA348314628
493 R>G No ClinGen
gnomAD
rs777266735
CA348314610
495 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs749146036
CA348314613
495 H>N No ClinGen
ExAC
gnomAD
rs567538647
CA1841841
495 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1841842
rs777266735
495 H>R No ClinGen
ExAC
TOPMed
gnomAD
COSM1185982
CA1841843
rs749146036
495 H>Y lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA348314607
COSM1005727
rs1483244089
496 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA348314605
rs139024940
496 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1841840
rs139024940
496 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780682699
CA1841839
499 R>G No ClinGen
ExAC
gnomAD
CA348314162
rs1410979606
500 V>I No ClinGen
TOPMed
rs1322229821
CA348314155
501 P>A No ClinGen
gnomAD
CA348314151
rs1470283204
501 P>L No ClinGen
TOPMed
rs746574160
CA1841811
504 S>G No ClinGen
ExAC
gnomAD
CA348314130
rs1339610981
504 S>N No ClinGen
TOPMed
gnomAD
rs757851206
CA1841809
506 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs771891349
CA1841807
507 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs754305752
CA1841808
507 C>R No ClinGen
ExAC
gnomAD
CA348314088
rs1395801813
510 L>V No ClinGen
gnomAD
CA1841805
rs764461296
513 M>V No ClinGen
ExAC
gnomAD
rs1366795891
CA348314058
514 H>P No ClinGen
TOPMed
rs1464336110
CA348314053
515 S>G No ClinGen
gnomAD
rs1379380747
CA348314051
515 S>N No ClinGen
gnomAD
TCGA novel 518 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1841804
rs756457631
523 S>G No ClinGen
ExAC
gnomAD

No associated diseases with Q8WV83

1 regional properties for Q8WV83

Type Name Position InterPro Accession
domain EamA domain 235 - 315 IPR000620

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

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

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A6QL92 SLC35F5 Solute carrier family 35 member F5 Bos taurus (Bovine) PR
Q8R314 Slc35f5 Solute carrier family 35 member F5 Mus musculus (Mouse) PR
10 20 30 40 50 60
MVPPRRHRGA GRPGVLSSSP PFRLRSAKFS GIALEDLRRA LKTRLQMVCV FVMNRMNSQN
70 80 90 100 110 120
SGFTQRRRMA LGIVILLLVD VIWVASSELT SYVFTQYNKP FFSTFAKTSM FVLYLLGFII
130 140 150 160 170 180
WKPWRQQCTR GLRGKHAAFF ADAEGYFAAC TTDTTMNSSL SEPLYVPVKF HDLPSEKPES
190 200 210 220 230 240
TNIDTEKTPK KSRVRFSNIM EIRQLPSSHA LEAKLSRMSY PVKEQESILK TVGKLTATQV
250 260 270 280 290 300
AKISFFFCFV WFLANLSYQE ALSDTQVAIV NILSSTSGLF TLILAAVFPS NSGDRFTLSK
310 320 330 340 350 360
LLAVILSIGG VVLVNLAGSE KPAGRDTVGS IWSLAGAMLY AVYIVMIKRK VDREDKLDIP
370 380 390 400 410 420
MFFGFVGLFN LLLLWPGFFL LHYTGFEDFE FPNKVVLMCI IINGLIGTVL SEFLWLWGCF
430 440 450 460 470 480
LTSSLIGTLA LSLTIPLSII ADMCMQKVQF SWLFFAGAIP VFFSFFIVTL LCHYNNWDPV
490 500 510 520
MVGIRRIFAF ICRKHRIQRV PEDSEQCESL ISMHSVSQED GAS