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

1–12 of 82 variants

9 papers

NM_001346022.3

p.K546*

c.1636A>T

7 papers

NM_001346022.3

p.K67E

c.199A>G

4 papers

NM_001346022.3

p.V3delFs

c.7delC

3 papers

NM_001346022.3

p.K336delFs

c.1008delT

3 papers

NM_001346022.3

p.R521T

c.1562G>C

3 papers

NM_001346022.3

p.Q621E

c.1861C>G

3 papers

NM_001346022.3

p.Q652R

c.1955A>G

3 papers

NM_001346022.3

p.Q691*

c.2071C>T

2 papers

NM_001346022.3

p.D25A

c.74A>C

2 papers

NM_001346022.3

p.E26A

c.77A>C

2 papers

NM_001346022.3

p.E220*

c.658G>T

2 papers

NM_001346022.3

p.V243M

c.727G>A