Varaico: Literature-Extracted Genetic Variants

Gene:OTUB1

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
1–12 of 38 variants
16 papers
NM_017670.3
p.C91S
c.271T>A
16 papers
NM_017670.3
p.C91S
c.272G>C
8 papers
NM_017670.3
p.D88A
c.263A>C
4 papers
NM_017670.3
p.T134R
c.401C>G
1 paper
NM_017670.3
p.E5fs
c.13_14fs
1 paper
NM_017670.3
p.L14M
c.40C>A
1 paper
NM_017670.3
p.C23S
c.67T>A
1 paper
NM_017670.3
p.C23S
c.68G>C
1 paper
NM_017670.3
p.Q33R
c.98A>G
1 paper
NM_017670.3
p.Q34insFs
c.100_101insA
1 paper
NM_017670.3
p.D35A
c.104A>C
1 paper
NM_017670.3
p.I37T
c.110T>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."