Varaico: Literature-Extracted Genetic Variants

Gene:USP30
Variant:p.H357R

USP30

86 papers

RefSeq Summary

USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM...

Pfam Domains

UCHaa 68–499UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 30

HGNC Alias Symbols

MGC10702; FLJ40511

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032663.5
p.H357R
c.1070A>G
Surrounding Variants
1 paper
NM_032663.5
p.N367S
c.1100A>G
1 paper
NM_032663.5
p.V343M
c.1027G>A
1 paper
NM_032663.5
p.G334S
c.1000G>A
1 paper
NM_032663.5
p.G383W
c.1147G>T
1 paper
NM_032663.5
p.P387L
c.1160C>T
1 paper
NM_032663.5
p.Q319*
c.955C>T
1 paper
NM_032663.5
p.K316_L317Splc
c.948+46G>A
1 paper
NM_032663.5
p.Q311*
c.931C>T
1 paper
NM_032663.5
p.S276L
c.827C>T
1 paper
NM_032663.5
p.S275*
c.824C>A
1 paper
NM_032663.5
p.S275*
c.824C>G
1 paper
NM_032663.5
p.H271Q
c.813C>A
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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."