Varaico: Literature-Extracted Genetic Variants

Gene:USP4
Variant:p.C311S

USP4

92 papers

RefSeq Summary

The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in mainta...

Pfam Domains

DUSPaa 31–123UCSCDUSP domain
Ubiquitin_3aa 139–226UCSCUbiquitin-like domain
UCHaa 302–920UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 4

HGNC Previous Symbol

UNP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_003363.4
p.C311S
c.931T>A
Surrounding Variants
1 paper
NM_003363.4
p.C311R
c.931T>C
6 papers
NM_003363.4
p.C311S
c.932G>C
1 paper
NM_003363.4
p.S315C
c.944C>G
1 paper
NM_003363.4
p.L301R
c.902T>G
1 paper
NM_003363.4
p.S295C
c.884C>G
1 paper
NM_003363.4
p.Q290L
c.869A>T
1 paper
NM_003363.4
p.Y287S
c.860A>C
1 paper
NM_003363.4
p.S286L
c.857C>T
1 paper
NM_003363.4
p.S258F
c.773C>T
1 paper
NM_003363.4
p.I339T
c.1016T>C
1 paper
NM_003363.4
p.Y355H
c.1063T>C
1 paper
NM_003363.4
p.Y355C
c.1064A>G
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