Varaico: Literature-Extracted Genetic Variants

Gene:USP30
Variant:p.Q18L

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
5 papers
NM_032663.5
p.Q18L
c.53A>T
Surrounding Variants
1 paper
NM_032663.5
p.A16V
c.47C>T
7 papers
NM_032663.5
p.A26D
c.77C>A
1 paper
NM_032663.5
p.R5R
c.13C>A
1 paper
NM_032663.5
p.I38T
c.113T>C
2 papers
NM_032663.5
p.A42G
c.125C>G
1 paper
NM_032663.5
p.A44D
c.131C>A
2 papers
NM_032663.5
p.A46P
c.136G>C
1 paper
NM_032663.5
p.R63*
c.187A>T
8 papers
NM_032663.5
p.C77S
c.229T>A
8 papers
NM_032663.5
p.C77S
c.230G>C
1 paper
NM_032663.5
p.S104A
c.310T>G
1 paper
NM_032663.5
p.P110L
c.329C>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."