Varaico: Literature-Extracted Genetic Variants

Gene:USP4
Variant:p.K186N

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
2 papers
NM_003363.4
p.K186N
c.558A>C
Surrounding Variants
2 papers
NM_003363.4
p.K186N
c.558A>T
1 paper
NM_003363.4
p.K186R
c.557A>G
1 paper
NM_003363.4
p.R179P
c.536G>C
1 paper
NM_003363.4
p.K197K
c.591G>A
1 paper
NM_003363.4
p.I175L
c.523A>C
1 paper
NM_003363.4
p.R170Q
c.509G>A
1 paper
NM_003363.4
p.R170W
c.508C>T
1 paper
NM_003363.4
p.E166D
c.498G>T
1 paper
NM_003363.4
p.E166D
c.498G>C
1 paper
NM_003363.4
p.A163Splc
c.488-1G>A
1 paper
NM_003363.4
p.Q227H
c.681G>T
1 paper
NM_003363.4
p.Q227H
c.681G>C
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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."