Varaico: Literature-Extracted Genetic Variants

Gene:USP1

USP1

140 papers

RefSeq Summary

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and...

Pfam Domains

UCHaa 81–646UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 1

HGNC Previous Name

ubiquitin specific protease 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 107 variants
20 papers
NM_003368.5
p.C90S
c.268T>A
20 papers
NM_003368.5
p.C90S
c.269G>C
9 papers
NM_003368.5
p.G670A
c.2009G>C
9 papers
NM_003368.5
p.G671A
c.2012G>C
4 papers
NM_003368.5
p.K673T
c.2018A>C
3 papers
NM_003368.5
p.L669P
c.2006T>C
3 papers
NM_003368.5
p.A676T
c.2026G>A
2 papers
NM_003368.5
p.P2S
c.4C>T
2 papers
NM_003368.5
p.M191I
c.573G>A
2 papers
NM_003368.5
p.M191I
c.573G>C
2 papers
NM_003368.5
p.M191I
c.573G>T
2 papers
NM_003368.5
p.V223I
c.667G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."