Varaico: Literature-Extracted Genetic Variants

Gene:OTUB1
Variant:p.C91S

OTUB1

58 papers

RefSeq Summary

The product of this gene is a member of the OTU (ovarian tumor) superfamily of predicted cysteine proteases. The encoded protein is a highly specific ubiquitin iso-peptidase, and cleaves ubiquitin fro...

Pfam Domains

Peptidase_C65aa 23–271UCSCPeptidase C65 Otubain

Gene Aliases

HGNC Name

OTU deubiquitinase, ubiquitin aldehyde binding 1

HGNC Alias Symbols

FLJ20113; FLJ40710

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
16 papers
NM_017670.3
p.C91S
c.272G>C
Surrounding Variants
16 papers
NM_017670.3
p.C91S
c.271T>A
8 papers
NM_017670.3
p.D88A
c.263A>C
1 paper
NM_017670.3
p.D88Y
c.262G>T
1 paper
NM_017670.3
p.P87L
c.260C>T
1 paper
NM_017670.3
p.R83H
c.248G>A
1 paper
NM_017670.3
p.I82T
c.245T>C
1 paper
NM_017670.3
p.K109R
c.326A>G
1 paper
NM_017670.3
p.A116T
c.346G>A
1 paper
NM_017670.3
p.K122R
c.365A>G
1 paper
NM_017670.3
p.S127_E132del0
c.379_396del18
1 paper
NM_017670.3
p.T131I
c.392C>T
1 paper
NM_017670.3
p.T134A
c.400A>G
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