Varaico: Literature-Extracted Genetic Variants

Gene:USP1
Variant:p.C90R

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.C90R
c.268T>C
Surrounding Variants
20 papers
NM_003368.5
p.C90S
c.268T>A
20 papers
NM_003368.5
p.C90S
c.269G>C
1 paper
NM_003368.5
p.L83L
c.249G>A
1 paper
NM_003368.5
p.Q97E
c.289C>G
1 paper
NM_003368.5
p.S67A
c.199T>G
1 paper
NM_003368.5
p.G108fs
c.322_323fs
1 paper
NM_003368.5
p.V109V
c.327A>G
1 paper
NM_003368.5
p.S117L
c.350C>T
1 paper
NM_003368.5
p.K132_G133Splc
c.396+1G>A
1 paper
NM_003368.5
p.A49D
c.146C>A
1 paper
NM_003368.5
p.K132_G133Splc
c.397-1G>T
1 paper
NM_003368.5
p.K48R
c.143A>G
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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."