Varaico: Literature-Extracted Genetic Variants

Gene:JOSD2
Variant:p.R130C

JOSD2

15 papers

RefSeq Summary

This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of t...

Pfam Domains

Josephinaa 19–174UCSCJosephin

Gene Aliases

HGNC Name

Josephin domain containing 2

HGNC Alias Symbol

SBBI54

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001270639.2
p.R130C
c.388C>T
Surrounding Variants
1 paper
NM_001270639.2
p.R130H
c.389G>A
1 paper
NM_001270639.2
p.H125Y
c.373C>T
1 paper
NM_001270639.2
p.E180del1
c.538_539delCTC
1 paper
NM_001270639.2
p.A76V
c.227C>T
1 paper
NM_001270639.2
p.H59L
c.176A>T
1 paper
NM_001270639.2
p.I46M
c.138C>G
1 paper
NM_001270639.2
p.R20C
c.58C>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."