Varaico: Literature-Extracted Genetic Variants

Gene:USP1
Variant:p.E717fs

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.E717fs
c.2149_2150fs
Surrounding Variants
1 paper
NM_003368.5
p.V737M
c.2209G>A
1 paper
NM_003368.5
p.A691D
c.2072C>A
1 paper
NM_003368.5
p.F750C
c.2249T>G
1 paper
NM_003368.5
p.D751N
c.2251G>A
2 papers
NM_003368.5
p.D751A
c.2252A>C
1 paper
NM_003368.5
p.D752N
c.2254G>A
1 paper
NM_003368.5
p.D752A
c.2255A>C
1 paper
NM_003368.5
p.E754K
c.2260G>A
3 papers
NM_003368.5
p.A676T
c.2026G>A
4 papers
NM_003368.5
p.K673T
c.2018A>C
9 papers
NM_003368.5
p.G671A
c.2012G>C
9 papers
NM_003368.5
p.G670A
c.2009G>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."