Varaico: Literature-Extracted Genetic Variants

Gene:USP1
Variant:p.C147R

USP1

140 papers

RefSeq Summary

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and...

Pfam Domains

UCHaa 81–646UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 1

HGNC Previous Name

ubiquitin specific protease 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003368.5
p.C147R
c.439T>C
Surrounding Variants
1 paper
NM_003368.5
p.S151Y
c.452C>A
1 paper
NM_003368.5
p.L152V
c.454T>G
1 paper
NM_003368.5
p.I153M
c.459C>G
1 paper
NM_003368.5
p.S155W
c.464C>G
1 paper
NM_003368.5
p.S155L
c.464C>T
1 paper
NM_003368.5
p.C135fs
c.403_404fs
1 paper
NM_003368.5
p.Q160E
c.478C>G
1 paper
NM_003368.5
p.K132_G133Splc
c.397-1G>T
1 paper
NM_003368.5
p.L164F
c.490C>T
1 paper
NM_003368.5
p.R180*
c.538C>T
1 paper
NM_003368.5
p.T184_L185delFs
c.552_555del4
1 paper
NM_003368.5
p.K132_G133Splc
c.396+1G>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."