Varaico: Literature-Extracted Genetic Variants

Gene:USP1
Variant:p.E375Q

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
Selected Variant
1 paper
NM_003368.5
p.E375Q
c.1123G>C
Surrounding Variants
1 paper
NM_003368.5
p.E375K
c.1123G>A
1 paper
NM_003368.5
p.Q370H
c.1110A>C
1 paper
NM_003368.5
p.Q370H
c.1110A>T
2 papers
NM_003368.5
p.L396H
c.1187T>A
1 paper
NM_003368.5
p.G417Splc
c.1249+91T>C
1 paper
NM_003368.5
p.E294*
c.880G>T
1 paper
NM_003368.5
p.S292P
c.874T>C
1 paper
NM_003368.5
p.L286fs
c.856_857fs
1 paper
NM_003368.5
p.K285E
c.853A>G
1 paper
NM_003368.5
p.K281Q
c.841A>C
1 paper
NM_003368.5
p.N279Y
c.835A>T
1 paper
NM_003368.5
p.D252H
c.754G>C
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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."