Varaico: Literature-Extracted Genetic Variants

USP15

84 papers

RefSeq Summary

This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain dis...

Pfam Domains

DUSPaa 27–119UCSCDUSP domain

Ubiquitin_3aa 135–222UCSCUbiquitin-like domain

UCHaa 289–930UCSCUbiquitin carboxyl-terminal hydrolase

USP7_C2aa 461–608UCSCUbiquitin-specific protease C-terminal

Gene Aliases

HGNC Name

ubiquitin specific peptidase 15

HGNC Alias Symbols

KIAA0529; UNPH4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001252078.2

p.R429*

c.1285C>T

Surrounding Variants

1 paper

NM_001252078.2

p.D431Y

c.1291G>T

1 paper

NM_001252078.2

p.V456V

c.1368A>G

1 paper

NM_001252078.2

p.Y463*

c.1389C>A

1 paper

NM_001252078.2

p.Y463*

c.1389C>G

1 paper

NM_001252078.2

p.E477fs

c.1429_1430fs

1 paper

NM_001252078.2

p.L407*

c.1220T>A

1 paper

NM_001252078.2

p.L407*

c.1220T>G

1 paper

NM_001252078.2

p.Q406*

c.1216C>T

1 paper

NM_001252078.2

p.Y404*

c.1212T>A

1 paper

NM_001252078.2

p.Y404*

c.1212T>G

1 paper

NM_001252078.2

p.Q491_Y492Splc

c.1473+1G>A

1 paper

NM_001252078.2

p.Q372*

c.1114C>T