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.E309D

c.927A>C

Surrounding Variants

1 paper

NM_001346022.3

p.E309D

c.927A>T

1 paper

NM_001346022.3

p.K282Splc

c.845+364A>T

1 paper

NM_001346022.3

p.K282Splc

c.845+2T>C

1 paper

NM_001346022.3

p.C280Y

c.839G>A

2 papers

NM_001346022.3

p.V243M

c.727G>A

1 paper

NM_001346022.3

p.R312Q

c.935G>A

1 paper

NM_001346022.3

p.K336T

c.1007A>C

3 papers

NM_001346022.3

p.K336delFs

c.1008delT

1 paper

NM_001346022.3

p.V337fs

c.1009_1010fs

1 paper

NM_001346022.3

p.K342E

c.1024A>G

1 paper

NM_001346022.3

p.R352R

c.1056G>A

1 paper

NM_001346022.3

p.A368E

c.1103C>A