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 Q96FV2

Entry ID Method Resolution Chain Position Source
AF-Q96FV2-F1 Predicted AlphaFoldDB

409 variants for Q96FV2

Variant ID(s) Position Change Description Diseaes Association Provenance
rs138512728
CA8628421
2 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1598053131
CA400094774
3 S>A No ClinGen
Ensembl
rs1448557007
CA400094769
3 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA291306676
rs974162394
4 S>L No ClinGen
Ensembl
rs1320986751
CA400094738
6 P>S No ClinGen
gnomAD
CA400094700
rs1219372546
8 S>F No ClinGen
gnomAD
CA8628416
rs745534015
9 P>A No ClinGen
ExAC
gnomAD
CA400094691
rs1383203588
9 P>L No ClinGen
TOPMed
CA8628414
rs780977396
10 C>R No ClinGen
ExAC
gnomAD
rs1298414621
CA400094671
11 S>A No ClinGen
TOPMed
CA291306653
rs908574404
12 C>R No ClinGen
gnomAD
rs1306080350
CA400094660
12 C>Y No ClinGen
TOPMed
rs1404194537
CA400094649
13 D>G No ClinGen
gnomAD
CA400094638
rs1274244531
14 C>R No ClinGen
TOPMed
rs986796006
CA291306650
14 C>S No ClinGen
Ensembl
rs1166187347
CA400094590
18 V>M No ClinGen
TOPMed
gnomAD
rs758439321
CA8628410
19 P>S No ClinGen
ExAC
gnomAD
CA291306647
rs1018474256
20 P>R No ClinGen
TOPMed
gnomAD
rs1182755512
CA400094571
20 P>S No ClinGen
gnomAD
CA8628407
rs765416800
21 A>T No ClinGen
ExAC
gnomAD
CA8628406
rs759761867
24 I>F No ClinGen
ExAC
gnomAD
rs1306456209
CA400094529
24 I>T No ClinGen
gnomAD
CA400094514
rs1270314900
25 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 26 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400094475
rs1215767046
28 I>T No ClinGen
gnomAD
CA400094455
rs1344956172
29 F>L No ClinGen
gnomAD
rs200222425
CA8628405
30 A>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1298903827
CA400094453
30 A>T No ClinGen
gnomAD
rs773736281
CA8628402
32 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA8628401
rs772529577
33 S>L No ClinGen
ExAC
gnomAD
CA400094392
rs772529577
33 S>W No ClinGen
ExAC
gnomAD
rs774925208
CA8628399
35 R>Q No ClinGen
ExAC
gnomAD
CA400094306
rs1390781060
39 E>D No ClinGen
TOPMed
gnomAD
CA400094301
rs1419845169
40 V>G No ClinGen
TOPMed
CA8628398
rs769298386
40 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1163640568
CA400094261
43 V>E No ClinGen
TOPMed
rs1163640568
CA400094256
43 V>G No ClinGen
TOPMed
rs371944909
CA8628397
43 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8628396
rs780770132
44 V>L No ClinGen
ExAC
gnomAD
CA8628395
rs770740608
45 F>I No ClinGen
ExAC
gnomAD
rs1480120446
CA400094196
47 P>L No ClinGen
gnomAD
CA400094185
rs1230763685
48 A>G No ClinGen
TOPMed
gnomAD
CA291306594
rs11556380
48 A>T No ClinGen
Ensembl
rs1449121975
CA400094160
50 T>I No ClinGen
gnomAD
rs746822156
CA8628394
53 P>L No ClinGen
ExAC
gnomAD
CA8628393
rs141077668
54 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400094054
rs1357867308
57 L>I No ClinGen
TOPMed
gnomAD
rs770438007
CA8628378
59 C>G No ClinGen
ExAC
gnomAD
CA8628376
rs200136043
62 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400093892
rs1598052491
63 E>G No ClinGen
Ensembl
CA400093884
rs1342782500
64 V>M No ClinGen
TOPMed
rs141690344
CA8628374
68 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141690344
CA8628373
68 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 70 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400093779
rs371057387
70 T>K No ClinGen
ESP
TOPMed
gnomAD
rs371057387
CA291306364
70 T>M No ClinGen
ESP
TOPMed
gnomAD
CA400093774
rs780206566
71 H>N No ClinGen
ExAC
gnomAD
rs1428085984
CA400093765
71 H>Q No ClinGen
gnomAD
CA8628370
rs780206566
71 H>Y No ClinGen
ExAC
gnomAD
rs1468679744
CA400093723
74 I>L No ClinGen
TOPMed
CA400093715
rs1270181397
74 I>T No ClinGen
gnomAD
rs1192252653
CA400093702
75 L>R No ClinGen
gnomAD
CA400093689
rs1194924586
76 S>N No ClinGen
TOPMed
rs144648187
CA8628364
77 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8628363
rs539260343
77 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400093665
rs765916305
78 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1221822738
CA400093658
78 P>L No ClinGen
gnomAD
CA8628361
rs765916305
78 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8628362
rs765916305
78 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA8628360
rs760236168
79 S>F No ClinGen
ExAC
gnomAD
rs771969789
CA8628358
80 W>C No ClinGen
ExAC
gnomAD
CA400093597
rs774317779
82 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA400093591
rs1399798572
82 W>C No ClinGen
TOPMed
CA8628356
rs774317779
82 W>S No ClinGen
ExAC
TOPMed
gnomAD
rs779932085
CA8628353
84 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1020664148
CA291306325
85 E>K No ClinGen
TOPMed
gnomAD
rs756285524
CA8628352
86 M>T No ClinGen
ExAC
gnomAD
CA400093541
rs1169931769
86 M>V No ClinGen
Ensembl
CA8628350
rs781445482
88 A>T No ClinGen
ExAC
rs1363748507
CA400093498
88 A>V No ClinGen
TOPMed
rs751884781
CA8628349
89 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs764452134
CA8628347
90 E>K No ClinGen
ExAC
gnomAD
CA8628346
rs529039186
93 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400093390
rs1598052220
95 I>L No ClinGen
Ensembl
CA400093383
rs753309612
95 I>N No ClinGen
ExAC
gnomAD
CA8628345
rs753309612
95 I>T No ClinGen
ExAC
gnomAD
CA291306295
rs374764950
97 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1025263280
CA291306292
101 W>G No ClinGen
Ensembl
rs145155073
CA8628342
102 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1198729199
CA400093251
103 K>E No ClinGen
TOPMed
rs17856536
VAR_029509
CA8628340
103 K>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs111736975
CA8628339
106 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1215807428
CA400093194
107 G>R No ClinGen
gnomAD
rs1191951193 110 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1381732789
CA400093121
111 A>V No ClinGen
gnomAD
rs377578539
CA8628336
114 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1199712522
CA400093069
115 M>I No ClinGen
Ensembl
CA400093072
rs1297110059
115 M>R No ClinGen
gnomAD
rs373523091
CA8628335
118 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372508790
CA8628307
121 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138415129
CA8628306
123 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138415129
CA400092861
123 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8628304
rs552628767
124 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8628305
rs201366477
124 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8628303
rs755484212
126 S>N No ClinGen
ExAC
gnomAD
rs1452013948
CA400092726
130 E>G No ClinGen
TOPMed
gnomAD
CA400092671
rs1206541489
133 H>Q No ClinGen
gnomAD
CA8628297
rs758020488
135 I>T No ClinGen
ExAC
gnomAD
rs752492059
CA8628296
136 T>A No ClinGen
ExAC
rs1477260134
CA400092589
138 L>F No ClinGen
TOPMed
rs759461917
CA8628294
143 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA291303942
rs938811075
144 Q>R No ClinGen
TOPMed
gnomAD
CA400092144
rs1598051398
145 G>E No ClinGen
Ensembl
CA8628292
CA400092147
COSM1479686
rs766421033
145 G>R Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
NCI-TCGA
rs772286172
CA8628289
146 G>A No ClinGen
ExAC
gnomAD
rs750983392 146 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs773195495
CA8628290
146 G>C No ClinGen
ExAC
gnomAD
rs773195495
CA400092142
146 G>S No ClinGen
ExAC
gnomAD
CA400092125
rs1160173387
148 C>F No ClinGen
gnomAD
rs1469389758
CA400092116
149 L>P No ClinGen
gnomAD
rs1174338659
CA400092110
150 E>Q No ClinGen
gnomAD
rs200085997
CA8628286
153 A>V No ClinGen
ExAC
gnomAD
rs1386006181
CA400092067
154 P>L No ClinGen
gnomAD
CA8628284
rs749802427
156 S>F No ClinGen
ExAC
gnomAD
CA291303907
rs376550553
157 Y>H No ClinGen
Ensembl
CA8628283
rs371394444
158 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368823871
CA8628282
159 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1280169048
CA400092001
160 T>N No ClinGen
TOPMed
gnomAD
rs1280169048
CA400092002
160 T>S No ClinGen
TOPMed
gnomAD
rs1219238222
CA400091979
163 L>M No ClinGen
gnomAD
rs562524135
CA8628281
163 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8628280
rs139229069
164 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400091971
rs139229069
164 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201868822
CA8628278
166 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400091947
rs201868822
166 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs146219626
CA291303858
COSM980544
166 R>H Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8628277
rs146219626
166 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400091942
rs1598051234
167 T>P No ClinGen
Ensembl
CA8628276
rs754814036
167 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA400091926
rs1336247522
168 E>D No ClinGen
gnomAD
CA400091918
rs1369950760
169 A>G No ClinGen
TOPMed
gnomAD
CA400091923
rs1415101295
169 A>T No ClinGen
TOPMed
gnomAD
CA400091916
rs1369950760
169 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1300620311
CA400091902
171 V>M No ClinGen
TOPMed
rs1358967638
CA400091858
175 A>S No ClinGen
TOPMed
rs1475401976
CA400091807
179 W>C No ClinGen
Ensembl
TCGA novel 180 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8628271
rs199533557
182 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA8628272
rs199533557
182 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs762090788
CA8628270
183 R>K No ClinGen
ExAC
gnomAD
CA400091763
rs1567956680
184 I>V No ClinGen
Ensembl
TCGA novel 185 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400091735
rs141595908
186 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141595908
CA8628269
186 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400091669
rs1350061315
187 G>W No ClinGen
gnomAD
rs1411675593
CA400091662
188 A>T No ClinGen
gnomAD
rs544440097
CA291303424
188 A>V No ClinGen
1000Genomes
gnomAD
CA8628253
rs761850321
189 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs751802544
COSM472940
CA8628252
189 R>H kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400091617
rs1456404635
192 S>A No ClinGen
gnomAD
rs764374756
CA8628251
192 S>F No ClinGen
ExAC
gnomAD
rs1160755914
CA400091597
193 N>K No ClinGen
gnomAD
CA400091580
rs1472623764
195 L>Q No ClinGen
gnomAD
rs775943349
CA400091560
197 I>L No ClinGen
ExAC
gnomAD
CA8628248
rs770061842
197 I>T No ClinGen
ExAC
gnomAD
rs775943349
CA8628249
197 I>V No ClinGen
ExAC
gnomAD
CA8628247
rs760071512
198 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs143848838
CA8628246
199 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149653266
CA400091457
202 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149653266
CA8628244
202 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs866173364
CA291303373
204 Q>* No ClinGen
Ensembl
CA291303368
rs866580917
205 H>Q No ClinGen
gnomAD
rs138323768
CA8628242
206 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778415546
CA8628243
206 P>S No ClinGen
ExAC
TOPMed
rs779818477
CA8628239
207 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA8628237
rs201722687
209 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs755921644
CA8628238
209 R>W No ClinGen
ExAC
gnomAD
rs909604689
CA291303320
210 T>I No ClinGen
gnomAD
CA400091307
rs376210020
211 H>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376210020
CA8628236
211 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8628235
rs757251902
212 A>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs751643426
CA8628234
213 Q>* No ClinGen
ExAC
gnomAD
rs200507127
CA8628233
216 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8628232
rs763205655
217 W>* No ClinGen
ExAC
gnomAD
rs763205655
CA400091214
217 W>C No ClinGen
ExAC
gnomAD
rs572745262
CA291303303
217 W>R No ClinGen
1000Genomes
rs753038876
CA400091204
218 W>* No ClinGen
ExAC
gnomAD
rs753038876
CA8628231
218 W>L No ClinGen
ExAC
gnomAD
rs1427799614
CA400091182
219 D>N No ClinGen
gnomAD
rs570410687
CA291303275
220 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA400091117
rs1210796579
222 G>D No ClinGen
gnomAD
CA400091125
rs1246463825
222 G>S No ClinGen
gnomAD
rs769196425
CA291303267
228 Q>P No ClinGen
gnomAD
CA400090980
rs1301875620
229 I>N No ClinGen
gnomAD
CA8628226
rs771290354
229 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1598050170
CA400090893
233 T>P No ClinGen
Ensembl
rs370974672
CA8628221
236 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400090826
rs1159384673
236 P>L No ClinGen
TOPMed
CA400090818
rs1300583508
237 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8628220
rs749702891
238 R>C No ClinGen
ExAC
gnomAD
CA8628219
rs141728182
238 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757086961
CA8628217
239 M>T No ClinGen
ExAC
gnomAD
rs1331814914
CA400090699
243 K>E No ClinGen
TOPMed
rs375757690
CA8628215
245 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375757690
CA8628216
245 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8628214
rs139216151
245 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA8628212
rs765334493
247 Q>* No ClinGen
ExAC
gnomAD
CA400090615
rs1598050065
247 Q>R No ClinGen
Ensembl
rs1484272754
CA400090588
248 A>V No ClinGen
gnomAD
rs372666717
CA8628210
250 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766769648
CA8628209
250 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs372666717
COSM1224970
CA8628211
250 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1598050035
CA400090563
251 E>G No ClinGen
Ensembl
CA8628207
rs773765468
254 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs140113065
CA8628208
254 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8628205
rs199783567
256 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400090498
rs769284762
256 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8628203
rs769284762
256 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs199783567
CA8628204
256 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400090408
rs1418779395
258 G>E No ClinGen
TOPMed
gnomAD
TCGA novel 259 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400090387
rs1471648935
259 G>D No ClinGen
gnomAD
CA8628186
rs764811245
261 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA400090317
rs1450913002
262 A>G No ClinGen
gnomAD
TCGA novel 263 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1598049754
CA400090272
264 V>G No ClinGen
Ensembl
rs776407344
CA8628184
264 V>L No ClinGen
ExAC
gnomAD
rs770814864
CA8628183
265 M>T No ClinGen
ExAC
CA291303083
rs993783702
267 G>S No ClinGen
TOPMed
CA8628181
rs773160472
272 K>Q No ClinGen
ExAC
gnomAD
CA400090074
rs35901087
273 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_035263
CA8628180
rs35901087
273 E>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA400090003
rs1357400347
274 S>N No ClinGen
gnomAD
CA400089982
rs1311240282
275 G>D No ClinGen
gnomAD
rs201186794
CA8628178
275 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8628177
rs201186794
275 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA291303030
rs976423790
277 C>R No ClinGen
Ensembl
CA400089937
rs1456528317
278 M>T No ClinGen
TOPMed
TCGA novel 278 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA291303024
rs576520865
280 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs868843160
CA291303002
281 G>* No ClinGen
gnomAD
rs868843160
CA400089861
281 G>R No ClinGen
gnomAD
rs1567955964
CA400089831
282 G>V No ClinGen
Ensembl
rs142383711
CA8628174
284 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142383711
CA400089787
284 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA291302996
rs911443107
284 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs199517110
CA291302994
285 T>A No ClinGen
1000Genomes
CA400089756
rs1428350205
285 T>I No ClinGen
TOPMed
rs943646795
CA291302991
286 T>A No ClinGen
TOPMed
rs190097354
CA8628173
286 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1414311832
CA400089708
288 S>N No ClinGen
gnomAD
CA291302963
rs978928904
289 M>V No ClinGen
Ensembl
rs757696646
CA8628171
291 S>F No ClinGen
ExAC
gnomAD
CA400089645
rs1477658910
292 V>L No ClinGen
gnomAD
CA8628170
rs546999372
295 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
CA400089549
rs1293651014
298 T>A No ClinGen
TOPMed
CA8628169
rs7350956
298 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs7350956
CA400089530
298 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA291302937
rs7350956
298 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA8628167
rs564586578
299 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
CA400089511
rs1247071375
299 Q>R No ClinGen
gnomAD
rs1465945576
CA400089487
300 P>L No ClinGen
gnomAD
CA291302934
rs960132230
301 C>R No ClinGen
TOPMed
CA8628165
rs552325337
302 V>L No ClinGen
1000Genomes
ExAC
gnomAD
CA8628164
rs552325337
302 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs530726051
CA8628163
303 H>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8628162
rs530726051
303 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1226778714
CA400089389
305 L>P No ClinGen
TOPMed
rs755649777
CA291302913
305 L>V No ClinGen
TOPMed
gnomAD
rs372886856
CA8628159
307 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8628158
rs368479709
308 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1413964084
CA400089332
309 P>A No ClinGen
gnomAD
CA8628156
rs746097359
309 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1420985972
CA400089260
COSM1679885
312 S>F large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
COSM1679885
CA291302866
rs868052169
312 S>F large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs745395019
CA291302863
313 R>K No ClinGen
Ensembl
CA400089138
rs1338750692
315 V>A No ClinGen
gnomAD
CA400089109
rs1314771392
317 K>T No ClinGen
gnomAD
CA400089056
rs1369815612
320 I>V No ClinGen
gnomAD
rs924494537
CA291302797
321 F>C No ClinGen
TOPMed
CA8628145
rs761707106
322 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA291302780
rs761707106
322 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs376597524
CA8628143
323 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs7350974
CA400089024
CA400089019
323 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs7350974
VAR_029510
CA8628144
323 M>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA400088997
rs1187963697
324 G>E No ClinGen
gnomAD
CA400089004
rs1238735438
324 G>R No ClinGen
gnomAD
rs1486291837
CA400088990
325 V>L No ClinGen
gnomAD
CA8628139
rs769930573
329 P>R No ClinGen
ExAC
gnomAD
CA400088904
rs1274032943
330 Q>E No ClinGen
gnomAD
VAR_035264
CA8628137
rs34480825
330 Q>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
rs1555634924
CA8628135
331 V>E No ClinGen
Ensembl
rs776892060
CA8628134
332 L>P No ClinGen
ExAC
gnomAD
CA8628132
rs747346545
333 S>C No ClinGen
ExAC
gnomAD
CA400088839
rs1421568428
334 P>A No ClinGen
TOPMed
rs1306078512
CA400088814
335 T>I No ClinGen
gnomAD
CA400088826
rs1385152007
335 T>P No ClinGen
TOPMed
CA8628130
rs758870326
338 A>T No ClinGen
ExAC
gnomAD
CA400088767
rs1420896572
338 A>V No ClinGen
TOPMed
CA400088765
rs1163760830
339 Q>* No ClinGen
gnomAD
CA8628129
rs576491867
339 Q>P No ClinGen
1000Genomes
ExAC
CA8628128
rs779696133
340 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs199980564
CA8628127
341 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400088701
rs145068403
343 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8628124
rs145068403
343 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs767158187
CA8628125
343 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400088695
rs1567955539
344 T>A No ClinGen
Ensembl
rs1481876550
CA400088668
345 L>M No ClinGen
gnomAD
rs751312413
CA8628123
347 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs751312413
CA400088645
347 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs144133774
CA8628122
347 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8628121
COSM980542
rs144133774
347 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400088630
rs1275281211
348 F>V No ClinGen
gnomAD
rs1328548045
CA400088608
349 Q>* No ClinGen
gnomAD
rs1598048778
CA400088597
349 Q>P No ClinGen
Ensembl
rs1314542505
CA400088581
350 T>A No ClinGen
TOPMed
rs569100056
CA291302700
350 T>I No ClinGen
1000Genomes
TOPMed
gnomAD
CA400088574
rs569100056
350 T>N No ClinGen
1000Genomes
TOPMed
gnomAD
CA400088565
rs1567955501
351 Q>* No ClinGen
Ensembl
rs1225425200
CA400088554
CA400088550
351 Q>H No ClinGen
gnomAD
CA400088561
rs1286480896
351 Q>R No ClinGen
gnomAD
CA291302689
rs867357293
352 V>A No ClinGen
Ensembl
CA8628119
rs775467440
354 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8628118
COSM2697022
rs765282643
354 R>H Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA8628116
rs776709838
355 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs759656311
CA8628117
355 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1482108851
CA400088448
356 H>R No ClinGen
TOPMed
CA400088427
rs1182428346
357 T>I No ClinGen
TOPMed
CA400088438
rs1456291066
357 T>P No ClinGen
gnomAD
rs771123017
CA8628115
358 L>P No ClinGen
ExAC
CA8628114
rs747197925
359 Y>C No ClinGen
ExAC
gnomAD
rs561508132
CA8628113
360 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs561508132
CA400088388
360 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1383959
rs374214556
CA8628112
360 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
CA8628111
rs374214556
360 R>P No ClinGen
ESP
ExAC
TOPMed
TCGA novel 363 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400088333
rs1421401539
364 A>E No ClinGen
TOPMed
gnomAD
rs1421401539
CA400088331
364 A>V No ClinGen
TOPMed
gnomAD
rs1191050120
CA400088311
366 L>V No ClinGen
gnomAD
CA8628106
rs756875270
367 G>E No ClinGen
ExAC
CA8628108
CA8628107
rs780571854
367 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1266322932
CA400088272
369 M>T No ClinGen
gnomAD
rs1300494217
CA400088201
373 Q>* No ClinGen
gnomAD
CA400087995
rs750539970
374 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA8628075
rs750539970
374 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA400087996
rs1337177715
374 D>Y No ClinGen
gnomAD
CA8628074
rs762130963
375 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8628072
rs146230485
375 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762130963
CA8628073
375 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs763548777
CA8628070
377 Q>R No ClinGen
ExAC
gnomAD
rs1357983833
CA400087916
379 L>F No ClinGen
gnomAD
CA8628069
rs775899760
380 Q>* No ClinGen
ExAC
gnomAD
CA400087871
rs1394806275
381 Q>* No ClinGen
gnomAD
rs770450414
CA8628068
381 Q>L No ClinGen
ExAC
gnomAD
rs143275072
CA8628066
384 Q>E No ClinGen
ESP
ExAC
gnomAD
rs1294561321
CA400087813
385 D>H No ClinGen
TOPMed
rs528615260
CA291302376
386 L>M No ClinGen
Ensembl
CA291302374
rs61745061
387 E>Q No ClinGen
TOPMed
rs1476211377
CA400087759
388 Q>* No ClinGen
gnomAD
rs574222234
CA8628064
388 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1181395084
CA400087724
390 G>S No ClinGen
gnomAD
rs139515668
CA291302360
392 E>A No ClinGen
ESP
CA8628061
rs754809935
392 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs754809935
CA8628062
392 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs909236762
CA291302355
393 A>S No ClinGen
Ensembl
TCGA novel 393 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753793220
CA8628060
394 T>A No ClinGen
ExAC
TOPMed
CA400087635
rs1196104038
395 Q>P No ClinGen
TOPMed
gnomAD
rs1196104038
CA400087633
395 Q>R No ClinGen
TOPMed
gnomAD
rs779807693
CA8628058
396 G>A No ClinGen
ExAC
gnomAD
CA400087598
rs1183711216
397 L>P No ClinGen
TOPMed
TCGA novel 398 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400087572
rs1287102586
399 A>T No ClinGen
gnomAD
TCGA novel 399 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8628055
rs141621864
400 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8628054
rs141621864
400 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751896094
CA8628053
400 G>V No ClinGen
ExAC
gnomAD
rs952747097
CA291302329
401 E>G No ClinGen
Ensembl
CA8628050
rs761935218
401 E>K No ClinGen
ExAC
gnomAD
rs765617992
CA8628049
402 W>G No ClinGen
ExAC
gnomAD
rs866896396
CA291302295
403 A>T No ClinGen
TOPMed
gnomAD
CA400087502
rs1395353983
404 P>A No ClinGen
gnomAD
rs573416695
CA8628048
404 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs934400867
CA291302293
405 P>H No ClinGen
TOPMed
gnomAD
CA400087491
rs1340753156
405 P>S No ClinGen
TOPMed
CA8628047
rs147542181
406 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8628046
rs375403419
407 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400087479
rs1305621337
407 W>R No ClinGen
TOPMed
gnomAD
rs868498708
CA291302287
408 E>G No ClinGen
Ensembl
CA8628045
VAR_029511
rs17856535
411 S>G No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs143281920
CA8628043
411 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143281920
CA8628044
411 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748996909
CA8628042
413 F>I No ClinGen
ExAC
rs779903206
COSM188628
CA8628041
415 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1266944118
CA400087291
417 V>L No ClinGen
TOPMed
gnomAD
rs1266944118
CA400087296
417 V>M No ClinGen
TOPMed
gnomAD
CA400087267
rs1567954987
418 K>* No ClinGen
Ensembl
rs376979287
CA8628038
419 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757451151
CA8628037
420 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs372982459
CA8628035
420 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757451151
CA8628036
420 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1157827016
CA400087181
421 S>N No ClinGen
TOPMed
rs1240273831
CA400087161
422 Q>K No ClinGen
gnomAD
CA400087147
rs1370748536
423 A>P No ClinGen
gnomAD
CA400087148
rs1370748536
423 A>T No ClinGen
gnomAD
rs1402469564
CA400087142
423 A>V No ClinGen
TOPMed
rs764360298
CA8628033
424 Y>H No ClinGen
ExAC
gnomAD
CA400087083
rs142116967
425 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8628031
rs142116967
425 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q96FV2

No regional properties for Q96FV2

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q96FV2

Functions

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

1 GO annotations of cellular component

Name Definition
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.

2 GO annotations of molecular function

Name Definition
cysteine-type exopeptidase activity Catalysis of the hydrolysis of C- or N-terminal peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile.
dipeptidase activity Catalysis of the hydrolysis of a dipeptide.

1 GO annotations of biological process

Name Definition
proteolysis The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9CZC8 Scrn1 Secernin-1 Mus musculus (Mouse) PR
Q6AYR8 Scrn2 Secernin-2 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MASSSPDSPC SCDCFVSVPP ASAIPAVIFA KNSDRPRDEV QEVVFVPAGT HTPGSRLQCT
70 80 90 100 110 120
YIEVEQVSKT HAVILSRPSW LWGAEMGANE HGVCIGNEAV WTKEPVGEGE ALLGMDLLRL
130 140 150 160 170 180
ALERSSSAQE ALHVITGLLE HYGQGGNCLE DAAPFSYHST FLLADRTEAW VLETAGRLWA
190 200 210 220 230 240
AQRIQEGARN ISNQLSIGTD ISAQHPELRT HAQAKGWWDG QGAFDFAQIF SLTQQPVRME
250 260 270 280 290 300
AAKARFQAGR ELLRQRQGGI TAEVMMGILR DKESGICMDS GGFRTTASMV SVLPQDPTQP
310 320 330 340 350 360
CVHFLTATPD PSRSVFKPFI FGMGVAQAPQ VLSPTFGAQD PVRTLPRFQT QVDRRHTLYR
370 380 390 400 410 420
GHQAALGLME RDQDRGQQLQ QKQQDLEQEG LEATQGLLAG EWAPPLWELG SLFQAFVKRE
SQAYA