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.S390*

c.1169C>A

Surrounding Variants

1 paper

NM_001346022.3

p.S390*

c.1169C>G

1 paper

NM_001346022.3

p.P392S

c.1174C>T

1 paper

NM_001346022.3

p.N399S

c.1196A>G

1 paper

NM_001346022.3

p.I418T

c.1253T>C

1 paper

NM_001346022.3

p.D435H

c.1303G>C

1 paper

NM_001346022.3

p.P376S

c.1126C>T

1 paper

NM_001346022.3

p.A368E

c.1103C>A

1 paper

NM_001346022.3

p.R352R

c.1056G>A

1 paper

NM_001346022.3

p.K436_S437Splc

c.1308+1849T>C

1 paper

NM_001346022.3

p.K342E

c.1024A>G

1 paper

NM_001346022.3

p.V337fs

c.1009_1010fs

3 papers

NM_001346022.3

p.K336delFs

c.1008delT