Varaico: Literature-Extracted Genetic Variants

Gene:USP26
Variant:p.P683L

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.P683L
c.2048C>T
Surrounding Variants
1 paper
NM_031907.3
p.S678_G681del4
c.2032_2042del12
2 papers
NM_031907.3
p.P676S
c.2026C>T
2 papers
NM_031907.3
p.F689_Q690del2
c.2065_2069del6
2 papers
NM_031907.3
p.N695K
c.2085T>G
2 papers
NM_031907.3
p.N695K
c.2085T>A
1 paper
NM_031907.3
p.P696P
c.2088A>G
1 paper
NM_031907.3
p.F669S
c.2006T>C
1 paper
NM_031907.3
p.R698*
c.2092C>T
2 papers
NM_031907.3
p.T664I
c.1991C>T
5 papers
NM_031907.3
p.T659M
c.1976C>T
1 paper
NM_031907.3
p.I649_P653delFs
c.1946_1958del13
1 paper
NM_031907.3
p.E650_E652del0
c.1948_1956del9
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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."