Varaico: Literature-Extracted Genetic Variants

Gene:USP26
Variant:p.S185L

USP26

128 papers

RefSeq Summary

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue...

Pfam Domains

UCH_Naa 1–104UCSCN-terminal of ubiquitin carboxyl-terminal hydrolase 37
UCHaa 295–883UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 26

HGNC Previous Name

ubiquitin specific protease 26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031907.3
p.S185L
c.554C>T
Surrounding Variants
1 paper
NM_031907.3
p.E189*
c.565G>T
1 paper
NM_031907.3
p.N191H
c.571A>C
11 papers
NM_031907.3
p.E192E
c.576G>A
1 paper
NM_031907.3
p.H177Q
c.531C>G
1 paper
NM_031907.3
p.H177Q
c.531C>A
1 paper
NM_031907.3
p.E174*
c.520G>T
5 papers
NM_031907.3
p.G170R
c.508G>C
5 papers
NM_031907.3
p.G170R
c.508G>A
27 papers
NM_031907.3
p.L165S
c.494T>C
1 paper
NM_031907.3
p.S206P
c.616T>C
1 paper
NM_031907.3
p.A208A
c.624A>G
1 paper
NM_031907.3
p.T162A
c.484A>G
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