Varaico: Literature-Extracted Genetic Variants

Gene:USP17L2
Variant:p.A175V

USP17L2

62 papers

RefSeq Summary

DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of deubiquitinating enzymes. See USP1 (MIM 603478) for background information.[supplied by OMIM, Mar 2008].

Pfam Domains

UCHaa 80–372UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 17 like family member 2

HGNC Alias Symbol

DUB3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_201402.3
p.A175V
c.524C>T
Surrounding Variants
1 paper
NM_201402.3
p.A161V
c.482C>T
2 papers
NM_201402.3
p.D160G
c.479A>G
1 paper
NM_201402.3
p.L208F
c.622C>T
1 paper
NM_201402.3
p.G140D
c.419G>A
1 paper
NM_201402.3
p.D218N
c.652G>A
1 paper
NM_201402.3
p.S232T
c.695G>C
1 paper
NM_201402.3
p.K234Q
c.700A>C
3 papers
NM_201402.3
p.E244K
c.730G>A
3 papers
NM_201402.3
p.E91V
c.272A>T
7 papers
NM_201402.3
p.C89S
c.266G>C
7 papers
NM_201402.3
p.C89S
c.265T>A
1 paper
NM_201402.3
p.K265Q
c.793A>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."