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

8 structures for Q86V25

Entry ID Method Resolution Chain Position Source
6J4O X-ray 230 A A 46-296 PDB
6J4P X-ray 160 A A 46-296 PDB
6J4Q X-ray 270 A A/C/F/J 46-296 PDB
6J4S X-ray 280 A A 1-355 PDB
6J4V X-ray 210 A A 46-296 PDB
6QBY X-ray 209 A A/C 40-295 PDB
7ZCW EM 360 A C 1-355 PDB
AF-Q86V25-F1 Predicted AlphaFoldDB

287 variants for Q86V25

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1246485508
CA344796931
3 G>R No ClinGen
TOPMed
gnomAD
rs1184804017
CA344796952
4 S>Y No ClinGen
gnomAD
rs763067247
CA1386241
6 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 7 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1416099809
CA344797057
10 R>H No ClinGen
TOPMed
gnomAD
CA344797120
rs1411354969
12 P>L No ClinGen
gnomAD
CA344797106
rs1363955409
12 P>S No ClinGen
gnomAD
CA344797138
rs1359455128
13 H>L No ClinGen
TOPMed
rs913842786
CA344797143
13 H>Q No ClinGen
gnomAD
rs1226553627
CA344797210
17 A>T No ClinGen
gnomAD
CA1386245
rs761657176
19 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1420960109
CA344797275
20 T>A No ClinGen
TOPMed
rs1420960109
CA344797276
20 T>S No ClinGen
TOPMed
CA344797287
rs1287233323
21 R>G No ClinGen
TOPMed
gnomAD
rs989450377
CA36881843
22 S>Y No ClinGen
TOPMed
rs1253049156
CA344797318
23 R>Q No ClinGen
TOPMed
gnomAD
rs945281241
CA36881859
26 H>Y No ClinGen
gnomAD
CA1386247
rs750333194
27 A>T No ClinGen
ExAC
gnomAD
CA344797376
rs1267022601
27 A>V No ClinGen
gnomAD
rs1239270181
CA344797390
28 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1473132255
CA344797401
29 P>H No ClinGen
gnomAD
CA344797398
rs1234545147
29 P>S No ClinGen
Ensembl
CA344797425
rs1162739136
31 S>N No ClinGen
gnomAD
rs765828817
CA1386249
32 L>F No ClinGen
ExAC
rs1168972117
CA344797453
33 A>G No ClinGen
TOPMed
gnomAD
rs370044266
CA36881888
33 A>S No ClinGen
ESP
rs574615632
CA36881892
34 T>N No ClinGen
1000Genomes
rs1183292809
CA344797462
34 T>S No ClinGen
gnomAD
rs1336157877
CA344797485
36 G>R No ClinGen
gnomAD
rs1336157877
CA344797489
36 G>W No ClinGen
gnomAD
CA36881957
rs924925445
37 G>D No ClinGen
TOPMed
gnomAD
CA1386251
rs754645363
37 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs924925445
CA344797511
37 G>V No ClinGen
TOPMed
gnomAD
CA344797527
rs1228736371
39 E>K No ClinGen
gnomAD
rs1275790750
CA344797539
39 E>V No ClinGen
gnomAD
CA36881972
rs937777839
41 E>D No ClinGen
Ensembl
rs1572052765
CA344797581
42 D>G No ClinGen
Ensembl
rs1572052757
CA344797577
42 D>N No ClinGen
Ensembl
CA36881978
rs759620375
43 K>E No ClinGen
Ensembl
rs868203688
CA36881984
44 D>E No ClinGen
gnomAD
CA344797615
rs1341968841
44 D>N No ClinGen
gnomAD
CA344797628
rs1558138450
44 D>V No ClinGen
Ensembl
CA344797641
rs1281255472
45 G>R No ClinGen
TOPMed
gnomAD
CA344797637
rs1281255472
45 G>S No ClinGen
TOPMed
gnomAD
rs765047470
CA1386254
46 G>R No ClinGen
ExAC
gnomAD
rs1558138465
CA344797681
47 V>G No ClinGen
Ensembl
CA344797673
rs751957489
47 V>L No ClinGen
ExAC
gnomAD
rs751957489
CA1386255
47 V>M No ClinGen
ExAC
gnomAD
CA1386256
rs202035062
48 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA1386257
rs781735501
49 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA344797699
rs781735501
49 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA344797742
rs746388701
50 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA344797755
rs1356915024
51 V>I No ClinGen
TOPMed
rs922109850
CA36881992
52 N>S No ClinGen
TOPMed
CA344797789
rs1389306392
53 K>T No ClinGen
gnomAD
rs756166915
CA1386259
54 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA344797896
rs1413885925
57 P>A No ClinGen
gnomAD
rs1572052853
CA344797902
58 I>L No ClinGen
Ensembl
CA344797971
rs1366818216
61 H>N No ClinGen
TOPMed
gnomAD
rs774571991
CA344797976
61 H>P No ClinGen
ExAC
TOPMed
rs774571991
CA1386263
61 H>R No ClinGen
ExAC
TOPMed
CA344797970
rs1366818216
61 H>Y No ClinGen
TOPMed
gnomAD
CA1386265
rs771886693
CA344798011
63 W>R No ClinGen
ExAC
gnomAD
rs561573614
CA1386266
64 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344798036
rs1324323224
64 E>Q No ClinGen
TOPMed
gnomAD
rs1471901051
CA344798064
65 R>L No ClinGen
TOPMed
rs766379295
CA1386268
66 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA344798130
rs1261334755
68 M>T No ClinGen
gnomAD
rs1200432708
CA344798124
68 M>V No ClinGen
gnomAD
rs1466358524
CA344798165
69 H>Q No ClinGen
gnomAD
rs776000020
CA1386269
70 V>L No ClinGen
ExAC
gnomAD
CA344798211
rs1247574595
72 K>M No ClinGen
gnomAD
CA1386270
rs759173471
73 V>L No ClinGen
ExAC
gnomAD
rs1378030471
CA344798227
74 H>N No ClinGen
gnomAD
CA1386271
rs764922504
CA344798258
76 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1048833699
CA36882038
76 K>T No ClinGen
TOPMed
rs1558138599
CA344798263
77 G>E No ClinGen
Ensembl
rs147838895
CA1386272
CA344798260
77 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147838895
CA1386273
77 G>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1386275
rs767792299
78 G>A No ClinGen
ExAC
gnomAD
TCGA novel 78 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767792299
CA1386274
78 G>V No ClinGen
ExAC
gnomAD
TCGA novel 79 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 79 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1376431162
CA344798286
79 E>V No ClinGen
TOPMed
CA344798291
rs1457245685
80 M>V No ClinGen
gnomAD
CA1386276
rs756578657
81 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 83 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344798332
rs1382256453
83 A>V No ClinGen
gnomAD
COSM382997
rs1223426011
CA344798382
88 A>P lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs749272646
CA1386278
88 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA344798397
rs1401500214
89 F>L No ClinGen
TOPMed
rs1173190569
CA344798417
91 A>T No ClinGen
TOPMed
CA1386313
rs374073809
93 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374073809
CA1386312
93 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374073809
CA1386311
93 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368019092
CA36890391
95 I>V No ClinGen
ESP
TOPMed
gnomAD
CA1386315
rs765798613
96 P>H No ClinGen
ExAC
gnomAD
TCGA novel 97 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1249483645
CA344800367
97 Q>H No ClinGen
gnomAD
rs1484213043
CA344800395
98 V>D No ClinGen
gnomAD
CA344800482
rs1181886073
101 Y>D No ClinGen
gnomAD
rs1181886073
CA344800479
101 Y>H No ClinGen
gnomAD
rs1335390776
CA344800499
102 R>K No ClinGen
TOPMed
CA36890396
rs956708184
102 R>S No ClinGen
TOPMed
CA1386319
rs751836238
104 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1386318
rs777789606
104 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA344800529
rs751836238
104 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA36890410
rs546864186
105 M>T No ClinGen
TOPMed
CA1386321
rs781108855
105 M>V No ClinGen
ExAC
gnomAD
rs745695023
COSM1232187
CA1386322
COSM1232188
106 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs748743761
CA1386325
107 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA344800561
rs1303466914
107 I>N No ClinGen
gnomAD
CA36890454
rs138725158
109 D>A No ClinGen
ESP
TOPMed
gnomAD
CA344800595
rs1425924285
110 W>* No ClinGen
gnomAD
rs1351722049
CA344800590
110 W>G No ClinGen
Ensembl
CA1386326
rs768248056
110 W>L No ClinGen
ExAC
gnomAD
rs1300027573
CA344800600
111 L>I No ClinGen
gnomAD
CA344800614
rs1572061871
112 Q>P No ClinGen
Ensembl
COSM532363
rs771662401
COSM532364
CA344800623
113 A>E lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1386328
rs146398288
113 A>T No ClinGen
ESP
ExAC
gnomAD
rs771662401
COSM903629
CA1386329
COSM903628
113 A>V endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 115 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs189459502
CA1386331
118 M>L No ClinGen
1000Genomes
ExAC
gnomAD
rs142987440
CA1386332
118 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1213292733
CA344800868
125 H>P No ClinGen
gnomAD
rs1446029797
CA344800866
125 H>Y No ClinGen
gnomAD
rs1415480351
CA344800883
126 T>I No ClinGen
TOPMed
rs749272047
CA1386343
129 Q>R No ClinGen
ExAC
gnomAD
rs981296919
CA36893515
135 K>R No ClinGen
Ensembl
CA36893520
rs780891441
138 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs960671397
CA36893809
145 T>K No ClinGen
TOPMed
rs1233513357
CA344802138
150 T>I No ClinGen
gnomAD
rs1221181181
CA344802141
151 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs558983637
CA1386350
151 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775923575
CA1386351
153 S>A No ClinGen
ExAC
gnomAD
rs1277697895
CA344802226
158 C>R No ClinGen
TOPMed
rs763490312
CA1386352
160 E>G No ClinGen
ExAC
gnomAD
rs1162658597
CA344802282
162 V>A No ClinGen
gnomAD
rs1558145658
CA344802329
166 I>T No ClinGen
Ensembl
rs1222932493
CA344804360
167 Y>* No ClinGen
gnomAD
CA36898555
rs202039649
168 L>F No ClinGen
Ensembl
rs1213769651
CA344804380
169 T>S No ClinGen
TOPMed
TCGA novel 170 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1206013839
CA344804424
173 P>S No ClinGen
gnomAD
rs1206013839
CA344804422
173 P>T No ClinGen
gnomAD
rs199579781
CA1386372
175 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1207193213
CA344804455
176 E>K No ClinGen
TOPMed
CA1386373
rs772304910
177 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1051024012
CA36898560
177 R>W No ClinGen
TOPMed
COSM3418721
COSM3418720
CA36898607
rs890925192
186 F>L large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs753655168
CA1386377
188 G>A No ClinGen
ExAC
gnomAD
CA1386379
rs765153217
190 Y>H No ClinGen
ExAC
gnomAD
CA344804642
rs1246446084
192 H>N No ClinGen
TOPMed
gnomAD
CA344804640
rs1246446084
192 H>Y No ClinGen
TOPMed
gnomAD
rs1013655646
COSM903635
CA36898660
COSM903636
194 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs757854031
CA1386381
196 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs777239628
CA1386382
197 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs751105699
CA1386383
200 C>G No ClinGen
ExAC
gnomAD
CA1386384
rs185093740
201 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs749602409
CA1386386
203 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs150945050
CA1386387
203 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344804717
rs1348837590
204 Y>D No ClinGen
TOPMed
gnomAD
rs1348837590
CA344804716
204 Y>H No ClinGen
TOPMed
gnomAD
rs1182805241
CA344804727
205 G>A No ClinGen
TOPMed
gnomAD
CA344804738
rs1484843582
207 L>S No ClinGen
TOPMed
CA1386389
rs190097084
208 G>A No ClinGen
1000Genomes
ExAC
TOPMed
CA344804745
rs190097084
208 G>D No ClinGen
1000Genomes
ExAC
TOPMed
CA344804742
rs1292274306
208 G>S No ClinGen
gnomAD
rs772746948
CA1386390
211 R>C No ClinGen
ExAC
gnomAD
rs1197260560
COSM425262
CA344804766
COSM425263
211 R>H breast [Cosmic] No ClinGen
cosmic curated
gnomAD
CA344804788
rs1164742031
214 E>D No ClinGen
TOPMed
gnomAD
rs1213409637
CA344804799
216 M>T No ClinGen
TOPMed
CA1386393
rs771129048
217 D>E No ClinGen
ExAC
gnomAD
rs760897843
CA1386392
217 D>N No ClinGen
ExAC
gnomAD
rs759334108
CA1386395
223 R>Q No ClinGen
ExAC
gnomAD
CA1386394
rs776720732
223 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1412504172
CA344804849
224 T>A No ClinGen
TOPMed
rs1558148402
CA344804853
224 T>I No ClinGen
Ensembl
rs763227584
CA1386396
226 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs752585913
CA1386397
227 D>H No ClinGen
ExAC
gnomAD
rs1392000979
CA344804884
229 I>T No ClinGen
TOPMed
gnomAD
CA344804881
rs1376176462
229 I>V No ClinGen
TOPMed
gnomAD
CA344804893
rs1306444566
230 F>L No ClinGen
gnomAD
CA344804895
rs1334171764
231 D>H No ClinGen
gnomAD
rs1334171764
CA344804896
231 D>Y No ClinGen
gnomAD
rs1457333432
CA344804941
237 K>E No ClinGen
TOPMed
gnomAD
CA344804945
rs1315450266
237 K>R No ClinGen
gnomAD
rs1358390376
CA344804951
238 K>T Variant assessed as Somatic; 0.0002772 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs751052622
CA1386400
243 V>I No ClinGen
ExAC
gnomAD
CA344805003
rs756768360
245 K>N No ClinGen
ExAC
gnomAD
rs780860487
CA1386403
247 K>E No ClinGen
ExAC
gnomAD
rs780860487
CA1386404
247 K>Q No ClinGen
ExAC
gnomAD
CA1386405
rs143295860
248 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1386406
rs779117080
248 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA344805045
rs140457516
251 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778439455
CA1386409
251 Y>C No ClinGen
ExAC
gnomAD
COSM1232189
rs547668925
COSM1232190
CA1386411
252 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1386414
rs767217848
254 H>Q No ClinGen
ExAC
gnomAD
CA1386412
rs776863243
254 H>Y No ClinGen
ExAC
CA1386417
rs762791391
255 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs775256605
CA1386416
255 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs267598362
CA36898886
256 P>L No ClinGen
Ensembl
CA1386419
rs372369361
256 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1386418
rs372369361
256 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1243433850
CA344805107
257 H>Y No ClinGen
TOPMed
gnomAD
CA1386420
rs761340891
258 S>N No ClinGen
ExAC
gnomAD
rs922948611
CA36898894
259 F>S No ClinGen
Ensembl
CA1386423
rs138495697
262 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369702207
CA1386424
262 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344805186
rs1203762738
263 E>G No ClinGen
gnomAD
rs1459722563
CA344805199
264 W>* No ClinGen
gnomAD
CA344805231
rs1180447061
266 Q>R No ClinGen
gnomAD
CA344805250
rs914105883
268 V>F No ClinGen
TOPMed
gnomAD
rs914105883
CA36898916
268 V>I No ClinGen
TOPMed
gnomAD
rs1470973480
CA344805277
270 N>S No ClinGen
gnomAD
rs372322708
CA1386429
271 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1386432
rs769890903
272 S>T No ClinGen
ExAC
gnomAD
CA344805331
rs1356243158
274 M>I No ClinGen
TOPMed
rs1442799079
CA344805327
274 M>T No ClinGen
TOPMed
rs200712541
CA36898924
275 L>P No ClinGen
Ensembl
CA344805383
rs376961593
CA1386433
279 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1381454131
CA344805387
279 I>T No ClinGen
gnomAD
rs376961593
CA1386434
279 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1572073005
CA344805440
284 E>Q No ClinGen
Ensembl
CA1386435
rs768463996
287 A>V No ClinGen
ExAC
gnomAD
CA344805489
rs1223543072
290 M>I No ClinGen
gnomAD
CA1386436
rs149392900
290 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA36898934
rs149392900
290 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA36899715
rs1019948322
294 I>V No ClinGen
Ensembl
CA344806373
rs1326867694
295 L>P No ClinGen
TOPMed
rs762248062
CA1386464
296 K>N No ClinGen
ExAC
gnomAD
CA344806429
rs1443955639
297 P>R No ClinGen
gnomAD
rs767841990
CA1386465
297 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1338221147
CA344806437
298 A>P No ClinGen
gnomAD
CA344806440
rs1383113563
298 A>V No ClinGen
gnomAD
CA344806456
rs1247116760
299 S>N No ClinGen
gnomAD
TCGA novel 302 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1354826794
CA344806516
302 S>Y No ClinGen
gnomAD
CA1386467
rs533306170
303 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780081188
CA1386468
303 P>L Variant assessed as Somatic; 0.0003235 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755180737
CA1386470
305 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs1413492029
CA344806562
306 V>M No ClinGen
TOPMed
CA344806626
rs1182716628
309 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1386472
COSM1232185
rs779122598
COSM1232186
309 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs747833049
CA36899779
312 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs747833049
CA1386473
312 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA1386474
rs771934608
313 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA1386475
rs777521640
314 S>F No ClinGen
ExAC
gnomAD
TCGA novel 314 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs908332955
CA36899792
319 Q>E No ClinGen
TOPMed
gnomAD
CA344806798
rs1558149213
320 A>T No ClinGen
Ensembl
rs147347763
CA1386479
322 P>L No ClinGen
ESP
ExAC
gnomAD
rs759171226
CA344806841
323 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs769510234
CA1386481
323 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs759171226
CA1386480
323 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA1386483
rs762040777
324 R>G No ClinGen
ExAC
gnomAD
CA344806856
rs1426841019
324 R>K No ClinGen
gnomAD
TCGA novel 325 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767904683
CA1386484
325 R>G No ClinGen
ExAC
gnomAD
rs549406503
CA36899866
326 L>F No ClinGen
gnomAD
CA1386485
rs199687294
327 G>S No ClinGen
ExAC
gnomAD
rs1254353034
CA344806921
327 G>V No ClinGen
TOPMed
gnomAD
CA1386487
rs35976699
328 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145299792
CA1386486
328 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA344806935
rs1476830659
329 R>* No ClinGen
gnomAD
rs60032955
CA1386488
329 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1232191
rs907908245
CA36899898
COSM1232192
330 E>D large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs755056065
CA1386489
332 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344809147
rs1337726294
333 P>T No ClinGen
TOPMed
gnomAD
rs745819910
CA1386516
334 A>V No ClinGen
ExAC
gnomAD
CA344809160
rs1308246195
335 L>R No ClinGen
gnomAD
rs544857449
CA1386517
336 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA344809196
rs1490291716
340 V>A No ClinGen
Ensembl
rs748810843
CA1386519
341 A>T No ClinGen
ExAC
gnomAD
CA36907059
rs376941663
344 S>G No ClinGen
Ensembl
rs747266193
CA344809223
345 T>P No ClinGen
gnomAD
rs747266193
CA36907063
345 T>S No ClinGen
gnomAD
CA344809239
rs542871161
347 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1378104731
CA344809242
348 E>K No ClinGen
gnomAD
CA344809251
rs1295563328
349 V>M No ClinGen
TOPMed
rs561175067
CA1386523
350 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1386524
rs777031301
351 Y>H No ClinGen
ExAC
gnomAD
rs1386384700
CA344809269
352 Q>* No ClinGen
TOPMed
gnomAD
rs1386384700
CA344809268
352 Q>E No ClinGen
TOPMed
gnomAD
CA1386525
rs760003665
352 Q>R No ClinGen
ExAC
gnomAD
CA1386526
rs528044734
354 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD

No associated diseases with Q86V25

No regional properties for Q86V25

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q86V25

Functions

Description
EC Number 3.4.17.17 Metallocarboxypeptidases
Subcellular Localization
  • Cytoplasm
  • Secreted
  • Cytoplasm, cytoskeleton
  • Mainly localizes in the cytoplasm (PubMed:19204325)
  • Some fraction is secreted via a non-canonical secretion system; interaction with SVBP promotes secretion (PubMed:20736312)
  • Associates with microtubules (PubMed:31235911)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.

4 GO annotations of molecular function

Name Definition
actin binding Binding to monomeric or multimeric forms of actin, including actin filaments.
metallocarboxypeptidase activity Catalysis of the hydrolysis of a single C-terminal amino acid residue from a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
tubulin-tyrosine carboxypeptidase Catalysis of the reaction: C-terminal L-alpha-aminoacyl-L-glutamyl-L-glutamyl-L-tyrosyl-

8 GO annotations of biological process

Name Definition
axon development The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation).
cell-cell fusion A cellular process in which two or more cells combine together, their plasma membrane fusing, producing a single cell. In some cases, nuclei fuse, producing a polyploid cell, while in other cases, nuclei remain separate, producing a syncytium.
labyrinthine layer blood vessel development The process whose specific outcome is the progression of a blood vessel of the labyrinthine layer of the placenta over time, from its formation to the mature structure. The embryonic vessels grow through the layer to come in close contact with the maternal blood supply.
positive regulation of angiogenesis Any process that activates or increases angiogenesis.
positive regulation of endothelial cell proliferation Any process that activates or increases the rate or extent of endothelial cell proliferation.
proteolysis The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
regulation of angiogenesis Any process that modulates the frequency, rate or extent of angiogenesis.
syncytium formation by plasma membrane fusion The formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane, by the fusion of the plasma membranes of two or more individual cells.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MTGSAADTHR CPHPKGAKGT RSRSSHARPV SLATSGGSEE EDKDGGVLFH VNKSGFPIDS
70 80 90 100 110 120
HTWERMWMHV AKVHPKGGEM VGAIRNAAFL AKPSIPQVPN YRLSMTIPDW LQAIQNYMKT
130 140 150 160 170 180
LQYNHTGTQF FEIRKMRPLS GLMETAKEMT RESLPIKCLE AVILGIYLTN GQPSIERFPI
190 200 210 220 230 240
SFKTYFSGNY FHHVVLGIYC NGRYGSLGMS RRAELMDKPL TFRTLSDLIF DFEDSYKKYL
250 260 270 280 290 300
HTVKKVKIGL YVPHEPHSFQ PIEWKQLVLN VSKMLRADIR KELEKYARDM RMKILKPASA
310 320 330 340 350
HSPTQVRSRG KSLSPRRRQA SPPRRLGRRE KSPALPEKKV ADLSTLNEVG YQIRI