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 Q9NVL8

Entry ID Method Resolution Chain Position Source
AF-Q9NVL8-F1 Predicted AlphaFoldDB

255 variants for Q9NVL8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA7202083
rs756943054
2 G>V No ClinGen
ExAC
gnomAD
rs529772268
CA7202082
3 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs529772268
CA389845772
3 L>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777561424
CA7202081
4 S>T No ClinGen
ExAC
gnomAD
rs755741754
CA7202080
5 H>L No ClinGen
ExAC
TOPMed
CA261568660
rs1018299378
6 S>P No ClinGen
TOPMed
gnomAD
rs759355354
CA7202076
9 H>Q No ClinGen
ExAC
gnomAD
rs759752791
CA7202077
9 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs751396552
CA7202074
12 V>L No ClinGen
ExAC
gnomAD
rs751396552
CA389845670
12 V>M No ClinGen
ExAC
gnomAD
CA7202073
rs766030829
15 V>I No ClinGen
ExAC
gnomAD
CA261568608
rs985133420
16 A>V No ClinGen
TOPMed
rs1459584440
CA389845613
COSM243294
17 P>S prostate [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA7202069
rs140776555
20 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7202068
rs776650696
21 K>E No ClinGen
ExAC
gnomAD
rs1385043953
CA389845462
26 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs201357909
CA7202064
COSM1748902
27 S>L Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA261568563
rs201357909
27 S>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777620715
CA7202062
28 A>P No ClinGen
ExAC
gnomAD
CA7202061
rs777620715
28 A>T No ClinGen
ExAC
gnomAD
rs755799407
CA7202060
30 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149223383
CA7202059
30 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7202058
rs149223383
30 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1594830870
CA389845436
31 V>G No ClinGen
Ensembl
rs1594830863
CA389845431
32 D>G No ClinGen
Ensembl
rs754957433
CA7202057
35 F>C No ClinGen
ExAC
gnomAD
CA389845406
rs555016984
36 N>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA261568482
rs1055486668
36 N>S No ClinGen
TOPMed
gnomAD
CA7202056
rs555016984
36 N>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA389845398
rs1244002468
37 Q>* No ClinGen
TOPMed
gnomAD
CA389845388
rs1386299135
38 N>S No ClinGen
TOPMed
rs1474803734
CA389845375
40 E>* No ClinGen
gnomAD
TCGA novel 40 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA261568466
rs903828799
41 E>K No ClinGen
TOPMed
CA7202053
rs146627831
43 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1447353445
CA389845344
44 S>L No ClinGen
gnomAD
rs1042383005
CA261568450
45 Y>C No ClinGen
TOPMed
rs765473482
CA7202052
46 S>A No ClinGen
ExAC
gnomAD
CA389845309
rs1594830619
49 R>G No ClinGen
Ensembl
rs761973982
CA7202050
49 R>K No ClinGen
ExAC
gnomAD
rs1386415061
CA389845271
51 Q>R No ClinGen
TOPMed
CA389845249
rs1272128560
52 D>E No ClinGen
gnomAD
CA389845237
rs1431816495
53 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA389845217
rs1330857474
55 K>I No ClinGen
gnomAD
rs1301639178
CA389845216
55 K>N No ClinGen
gnomAD
CA389845212
rs1299550896
56 A>S No ClinGen
TOPMed
CA389845172
rs1168515573
62 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA389845163
rs1416845823
63 P>L No ClinGen
gnomAD
CA389845166
rs1408861592
63 P>S No ClinGen
TOPMed
gnomAD
CA7202047
rs760800498
68 W>* No ClinGen
ExAC
rs547387205
CA7202046
71 R>K No ClinGen
1000Genomes
ExAC
gnomAD
CA389845103
rs1229333302
72 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA261568391
rs796157180
73 S>P No ClinGen
Ensembl
CA7202045
rs144484702
74 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA261568389
rs144484702
74 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1422314071
CA389844649
77 R>G No ClinGen
TOPMed
gnomAD
CA389844617
rs1371810597
78 D>E No ClinGen
TOPMed
CA7202034
rs764950635
80 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA7202032
rs754074506
81 F>V No ClinGen
ExAC
gnomAD
TCGA novel 82 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764363010
CA7202031
83 I>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 83 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA261566293
rs200269990
84 P>Q No ClinGen
Ensembl
TCGA novel 86 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs544713609
CA389844443
89 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7202030
rs544713609
COSM3744385
89 E>G liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 89 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389844449
rs1269390866
89 E>Q No ClinGen
gnomAD
CA7202028
rs775611100
90 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA7202027
rs768171895
93 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs760072259
CA7202026
95 R>K No ClinGen
ExAC
gnomAD
rs938615075
CA389844343
95 R>S No ClinGen
TOPMed
gnomAD
CA389844333
rs1324690511
96 H>Y No ClinGen
gnomAD
CA7202025
rs774869771
97 P>L No ClinGen
ExAC
gnomAD
rs1293230516
CA389844294
98 P>L No ClinGen
TOPMed
rs145357859
CA7201988
105 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1566584241
CA389843444
106 P>S No ClinGen
Ensembl
rs146784735
CA7201987
107 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765567833
CA7201985
108 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA389843421
rs1383254051
109 L>F No ClinGen
TOPMed
rs1566584184
CA389843425
109 L>S No ClinGen
Ensembl
COSM3814973
CA7201983
rs775180996
110 P>Q Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs149798976
CA7201982
111 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759085921
CA7201981
111 R>Q No ClinGen
ExAC
gnomAD
rs1425364711
CA389843405
112 V>I No ClinGen
gnomAD
CA7201980
rs139733112
113 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7201979
rs770797743
114 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1168557535
CA389843373
114 T>P No ClinGen
gnomAD
rs777436221
CA7201977
116 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1038816791
CA261559318
118 L>V No ClinGen
Ensembl
CA7201976
rs150566449
121 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM3401363
rs747886419
CA7201975
122 R>* central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA7201974
rs562072722
122 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs910036148
CA261559291
123 E>D No ClinGen
TOPMed
TCGA novel 124 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 125 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755222944
CA389843206
125 R>S No ClinGen
ExAC
gnomAD
rs751722948
CA7201972
126 T>I No ClinGen
ExAC
gnomAD
CA389843197
rs1485853962
126 T>S No ClinGen
Ensembl
rs367641569
CA7201970
128 H>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1304850787
CA389843121
130 A>G No ClinGen
gnomAD
rs780131468
CA7201954
132 Q>* No ClinGen
ExAC
gnomAD
rs201110545
CA7201952
133 V>A No ClinGen
ExAC
gnomAD
CA7201951
rs201110545
133 V>G No ClinGen
ExAC
gnomAD
rs758559120
CA389842912
133 V>I No ClinGen
ExAC
gnomAD
CA7201953
rs758559120
133 V>L No ClinGen
ExAC
gnomAD
CA389842837
rs1288657920
137 K>T No ClinGen
Ensembl
CA389842828
rs888396502
138 M>K No ClinGen
TOPMed
gnomAD
CA261557982
rs888396502
138 M>T No ClinGen
TOPMed
gnomAD
CA7201947
rs754631919
141 P>L No ClinGen
ExAC
gnomAD
rs1314421690
CA389842799
142 M>T No ClinGen
gnomAD
CA389842803
rs1377701624
142 M>V No ClinGen
TOPMed
gnomAD
CA7201946
rs751281239
143 Y>H No ClinGen
ExAC
gnomAD
CA7201945
rs765934485
144 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs866408699
CA261557974
146 E>K No ClinGen
Ensembl
CA261557971
rs1025090564
148 R>* No ClinGen
TOPMed
rs765255007
CA7201942
150 Y>C No ClinGen
ExAC
gnomAD
rs772568923
CA7201943
150 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1445386275
CA389842726
153 K>E No ClinGen
gnomAD
rs1566581668
CA389842720
153 K>N No ClinGen
Ensembl
rs1385179492
CA389842703
154 M>I No ClinGen
gnomAD
CA261557914
rs776568475
154 M>R No ClinGen
ExAC
gnomAD
COSM698294
CA7201940
rs776568475
154 M>T lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs201234958
CA261557909
156 V>G No ClinGen
1000Genomes
gnomAD
CA389842687
rs1182376803
156 V>L No ClinGen
gnomAD
rs1187892581
CA389842680
157 L>P No ClinGen
TOPMed
gnomAD
CA7201938
rs35977877
159 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775826016
CA7201937
160 I>S No ClinGen
ExAC
gnomAD
rs189684969
CA7201936
161 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7201935
rs745990428
161 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7201934
rs778808490
162 K>R No ClinGen
ExAC
gnomAD
TCGA novel 163 R>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389842625
rs1281850518
165 E>D No ClinGen
gnomAD
CA389842628
rs1466818775
165 E>G No ClinGen
Ensembl
rs749730596
CA7201931
165 E>K No ClinGen
ExAC
gnomAD
rs767646481
CA7201911
166 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA7201912
rs112954258
166 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1489394903
CA389842575
171 K>E No ClinGen
gnomAD
rs889472185
CA261556886
171 K>R No ClinGen
TOPMed
CA389842532
rs1419912110
177 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1436217128
CA389842521
178 A>E No ClinGen
gnomAD
CA389842508
rs1377544408
180 I>N No ClinGen
TOPMed
TCGA novel 180 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs34960436
CA7201906
RCV000238939
183 Q>* No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs750106322
CA7201905
183 Q>H No ClinGen
ExAC
gnomAD
CA261556826
rs961009606
185 P>S No ClinGen
TOPMed
rs961009606
CA389842473
185 P>T No ClinGen
TOPMed
rs1266438094
CA389842467
186 R>K No ClinGen
TOPMed
rs1488322196
CA389842453
188 H>D No ClinGen
TOPMed
CA7201901
rs34786761
188 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA261556814
rs751857460
189 K>I No ClinGen
TOPMed
gnomAD
rs752549069
CA7201899
191 K>R No ClinGen
ExAC
gnomAD
rs1465779937
CA389842420
192 K>N No ClinGen
gnomAD
CA389842401
rs1247499310
195 Q>H No ClinGen
TOPMed
gnomAD
CA389842396
rs1404922793
196 S>I No ClinGen
gnomAD
CA7201896
rs774495205
198 P>R No ClinGen
ExAC
gnomAD
CA261556779
rs759817234
199 R>K No ClinGen
Ensembl
CA7201894
rs771120243
200 N>D No ClinGen
ExAC
gnomAD
rs763063809
CA7201893
202 D>E No ClinGen
ExAC
TOPMed
CA261556763
rs369138268
202 D>N No ClinGen
ESP
TOPMed
gnomAD
rs1261517699
CA389842304
204 D>E No ClinGen
gnomAD
rs770310584
CA7201891
204 D>N No ClinGen
ExAC
rs748549020
CA7201890
204 D>V No ClinGen
ExAC
gnomAD
rs1212608075
CA389842298
205 L>I No ClinGen
gnomAD
CA389842279
rs1456140600
206 L>V No ClinGen
TOPMed
CA389842261
rs1333117556
207 T>N No ClinGen
TOPMed
CA261556742
rs1056812053
208 M>T No ClinGen
TOPMed
CA261556747
rs1028616938
208 M>V No ClinGen
Ensembl
rs1445929560
CA389842216
210 P>T No ClinGen
TOPMed
rs781718635
CA7201888
211 D>G No ClinGen
ExAC
gnomAD
CA389842168
rs1222599611
212 E>D No ClinGen
gnomAD
CA7201886
rs747373215
215 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs149520479
CA7201885
217 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748829551
CA7201883
218 P>L No ClinGen
ExAC
rs1485926698
CA389840665
219 G>E No ClinGen
TOPMed
gnomAD
CA7201881
rs563276311
219 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7201819
rs776014232
222 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1351167088
CA389840623
225 E>A No ClinGen
gnomAD
CA7201818
CA7201817
rs777948627
225 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1433662513
CA389840626
225 E>K No ClinGen
gnomAD
CA7201814
rs137965995
227 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7201813
rs771954185
228 K>N No ClinGen
ExAC
gnomAD
rs745681639
CA7201812
229 H>Q No ClinGen
ExAC
gnomAD
rs1172484397
CA389840596
229 H>R No ClinGen
gnomAD
CA7201811
rs757423243
230 Q>L No ClinGen
ExAC
gnomAD
CA7201810
rs757423243
230 Q>R No ClinGen
ExAC
gnomAD
CA389840577
rs1194193011
232 V>A No ClinGen
TOPMed
rs1189449784
CA389840566
234 N>D No ClinGen
gnomAD
VAR_024310
rs1152530
CA7201809
235 Y>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1152530
CA389840555
235 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1152530
CA389840556
235 Y>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA261549756
rs375624300
236 C>G No ClinGen
ESP
ExAC
TOPMed
rs375624300
CA7201808
236 C>R No ClinGen
ESP
ExAC
TOPMed
CA7201807
rs756311833
236 C>S No ClinGen
ExAC
gnomAD
CA389840545
rs1178126362
237 P>S No ClinGen
gnomAD
CA7201806
CA389840541
rs369678249
238 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7201805
rs141059426
240 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760072327
CA7201804
241 G>D No ClinGen
ExAC
gnomAD
CA389840499
rs1312040276
241 G>S No ClinGen
gnomAD
CA389840486
rs1221475870
242 K>* No ClinGen
gnomAD
TCGA novel 243 M>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389840468
rs1368958674
243 M>T No ClinGen
gnomAD
CA261549699
rs201420652
246 W>C No ClinGen
1000Genomes
gnomAD
rs369248135
CA7201803
246 W>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1374191015
CA389840410
247 L>F No ClinGen
gnomAD
CA389840407
rs1225094376
247 L>P No ClinGen
gnomAD
rs202244661
CA7201801
248 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146602887
CA7201802
COSM1707380
248 H>Y Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA389840337
rs1370839572
252 A>G No ClinGen
TOPMed
rs776407104
CA7201800
252 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs776407104
CA389840345
252 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs755772802
CA261549686
254 G>* No ClinGen
Ensembl
rs768263330
CA7201799
255 Q>L No ClinGen
ExAC
rs984274565
CA261549676
256 L>P No ClinGen
Ensembl
TCGA novel 257 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389840259
rs200420976
259 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200420976
CA7201798
259 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774929547
COSM401485
CA7201797
260 S>C lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1158053136
CA389840236
260 S>N No ClinGen
gnomAD
CA261549668
rs1025979974
261 S>P No ClinGen
Ensembl
rs1437980878
CA389840212
262 S>N No ClinGen
gnomAD
rs993131070
CA261549648
264 D>H No ClinGen
Ensembl
CA261549634
rs571261292
265 S>P No ClinGen
Ensembl
CA389840139
rs1483112021
267 E>D No ClinGen
TOPMed
gnomAD
rs181050215
CA7201795
267 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774148887
CA7201794
268 Q>P No ClinGen
ExAC
gnomAD
rs774148887
CA389840132
268 Q>R No ClinGen
ExAC
gnomAD
CA389840121
rs1173466856
269 G>R No ClinGen
Ensembl
CA7201792
rs749013253
271 D>Y No ClinGen
ExAC
gnomAD
CA7201791
rs778097592
274 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA389840043
rs778097592
274 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs144453893
CA7201789
276 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748261627
CA389840020
276 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA7201788
rs748261627
276 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA389840014
rs1378017201
277 A>G No ClinGen
gnomAD
CA7201787
rs781366514
277 A>T No ClinGen
ExAC
gnomAD
rs1152531
CA389839980
280 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367897577
CA261549519
282 R>G No ClinGen
ESP
rs758833561
CA7201783
282 R>K No ClinGen
ExAC
CA389839937
rs1464831327
284 E>K No ClinGen
gnomAD
TCGA novel 284 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1052487725
CA261549484
286 I>V No ClinGen
Ensembl
CA389839890
rs1423417431
287 P>L No ClinGen
gnomAD
CA7201777
rs760259322
288 L>F No ClinGen
ExAC
gnomAD
CA389839851
rs1489572855
290 D>E No ClinGen
gnomAD
CA389839856
rs1197754042
290 D>G No ClinGen
gnomAD
CA7201775
rs200992969
290 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201407662
CA7201773
291 E>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7201774
rs201407662
291 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7201771
rs749139861
292 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA389839829
rs1310220128
292 F>Y No ClinGen
gnomAD
rs948316316
CA261549427
293 F>L No ClinGen
Ensembl
CA389839804
rs1566567390
294 D>Y No ClinGen
Ensembl
CA7201769
rs773095015
295 Q>R No ClinGen
ExAC
gnomAD
rs770154918
CA7201768
296 E>K No ClinGen
ExAC
gnomAD

No associated diseases with Q9NVL8

No regional properties for Q9NVL8

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9NVL8

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Peripheral membrane protein
  • Cytoplasmic vesicle
  • The localization of CCDC198 changes from membranous to vesicle-forming structures in the malignant tissue
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

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

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MGLSHSKTHL RVIKVAPLQN KEVETPSAGR VDFAFNQNLE EKTSYSLARL QDQNKALEGQ
70 80 90 100 110 120
LPPLQENWYG RYSTASRDMY FDIPLEHRET SIIKRHPPQR LQKLEPIDLP RVITSGRLLS
130 140 150 160 170 180
QREARTMHKA KQVLEKKMQT PMYTSENRQY LHKMQVLEMI RKRQEAQMEL KKSLHGEARI
190 200 210 220 230 240
NKQSPRDHKA KKTLQSTPRN DDHDLLTMLP DEILNRGPGN SKNTEFLKHQ AVNNYCPWKI
250 260 270 280 290
GKMETWLHEQ EAQGQLLWDS SSSDSDEQGK DEKKPRALVR TRTERIPLFD EFFDQE