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.M1L

c.1A>T

Surrounding Variants

4 papers

NM_001346022.3

p.V3delFs

c.7delC

2 papers

NM_001346022.3

p.D25A

c.74A>C

2 papers

NM_001346022.3

p.E26A

c.77A>C

1 paper

NM_001346022.3

p.D27A

c.80A>C

1 paper

NM_001346022.3

p.V34Splc

c.101-2A>G

1 paper

NM_001346022.3

p.T37A

c.109A>G

1 paper

NM_001346022.3

p.C38*

c.114C>A

1 paper

NM_001346022.3

p.A44D

c.131C>A

1 paper

NM_001346022.3

p.E56*

c.166G>T

1 paper

NM_001346022.3

p.S60A

c.178T>G

7 papers

NM_001346022.3

p.K67E

c.199A>G

1 paper

NM_001346022.3

p.K87N

c.261G>T