Varaico: Literature-Extracted Genetic Variants

Gene:USP17L2
Variant:p.H521Q

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.H521Q
c.1563C>G
Surrounding Variants
1 paper
NM_201402.3
p.H521Q
c.1563C>A
3 papers
NM_201402.3
p.K518N
c.1554G>T
2 papers
NM_201402.3
p.K518N
c.1554G>C
1 paper
NM_201402.3
p.A525S
c.1573G>T
1 paper
NM_201402.3
p.L526V
c.1576C>G
1 paper
NM_201402.3
p.R494W
c.1480C>T
1 paper
NM_201402.3
p.S491L
c.1472C>T
1 paper
NM_201402.3
p.N488H
c.1462A>C
1 paper
NM_201402.3
p.R453K
c.1358G>A
2 papers
NM_201402.3
p.K438R
c.1313A>G
1 paper
NM_201402.3
p.Q430E
c.1288C>G
1 paper
NM_201402.3
p.P413L
c.1238C>T
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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."