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

1–12 of 89 variants

5 papers

NM_001252078.2

p.L100I

c.298C>A

3 papers

NM_006313.3

p.C269S

c.805T>A

3 papers

NM_006313.3

p.C269S

c.806G>C

2 papers

NM_001252078.2

p.C298S

c.892T>A

2 papers

NM_001252078.2

p.C298S

c.893G>C

2 papers

NM_001252078.2

p.R429*

c.1285C>T

1 paper

NM_001252078.2

p.G4S

c.10G>A

1 paper

NM_001252078.2

p.T29N

c.86C>A

1 paper

NM_001252078.2

p.L32delFs

c.94delC

1 paper

NM_001252078.2

p.V33G

c.98T>G

1 paper

NM_001252078.2

p.R36C

c.106C>T

1 paper

NM_001252078.2

p.W50*

c.149G>A