Varaico: Literature-Extracted Genetic Variants

USP45

83 papers

RefSeq Summary

The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes...

Pfam Domains

zf-UBPaa 62–139UCSCZn-finger in ubiquitin-hydrolases and other protein

UCHaa 190–286UCSCUbiquitin carboxyl-terminal hydrolase

UCHaa 190–810UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 45

HGNC Alias Symbol

MGC14793

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001346022.3

p.K180R

c.539A>G

Surrounding Variants

1 paper

NM_001346022.3

p.S188F

c.563C>T

1 paper

NM_001346022.3

p.F201fs

c.601_602fs

2 papers

NM_001346022.3

p.E220*

c.658G>T

1 paper

NM_001346022.3

p.T226I

c.677C>T

1 paper

NM_001346022.3

p.S234*

c.701C>G

1 paper

NM_001346022.3

p.S234*

c.701C>A

2 papers

NM_001346022.3

p.V243M

c.727G>A

1 paper

NM_001346022.3

p.C280Y

c.839G>A

1 paper

NM_001346022.3

p.K282Splc

c.845+2T>C

1 paper

NM_001346022.3

p.K282Splc

c.845+364A>T