Varaico: Literature-Extracted Genetic Variants

Gene:USP30
Variant:p.D175H

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
1 paper
NM_032663.5
p.D175H
c.523G>C
Surrounding Variants
1 paper
NM_032663.5
p.R182Q
c.545G>A
1 paper
NM_032663.5
p.H190R
c.569A>G
1 paper
NM_032663.5
p.T199N
c.596C>A
1 paper
NM_032663.5
p.P200S
c.598C>T
2 papers
NM_032663.5
p.R206H
c.617G>A
1 paper
NM_032663.5
p.I154F
c.460A>T
1 paper
NM_032663.5
p.I154delFs
c.461_462delTC
1 paper
NM_032663.5
p.C129Y
c.386G>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."