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.D575A

c.1724A>C

Surrounding Variants

9 papers

NM_001346022.3

p.K546*

c.1636A>T

1 paper

NM_001346022.3

p.T545S

c.1633A>T

3 papers

NM_001346022.3

p.Q621E

c.1861C>G

1 paper

NM_001346022.3

p.S523G

c.1567A>G

3 papers

NM_001346022.3

p.R521T

c.1562G>C

1 paper

NM_001346022.3

p.L639F

c.1915C>T

2 papers

NM_001346022.3

p.K650N

c.1950G>T

2 papers

NM_001346022.3

p.K650N

c.1950G>C

1 paper

NM_001346022.3

p.Y651*

c.1953C>G

1 paper

NM_001346022.3

p.Y651*

c.1953C>A

3 papers

NM_001346022.3

p.Q652R

c.1955A>G

1 paper

NM_001346022.3

p.E498*

c.1492G>T