Q86V25
Gene name |
VASH2 |
Protein name |
Tubulinyl-Tyr carboxypeptidase 2 |
Names |
Vasohibin-2, Vasohibin-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79805 |
EC number |
3.4.17.17: Metallocarboxypeptidases |
Protein Class |
|
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
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 |
|
|
| 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 |