Varaico: Literature-Extracted Genetic Variants

Gene:OTUB2
Variant:p.V216F

OTUB2

29 papers

RefSeq Summary

This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquiti...

Pfam Domains

Peptidase_C65aa 1–230UCSCPeptidase C65 Otubain

Gene Aliases

HGNC Name

OTU deubiquitinase, ubiquitin aldehyde binding 2

HGNC Previous Symbol

C14orf137

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_023112.4
p.V216F
c.646G>T
Surrounding Variants
1 paper
NM_023112.4
p.H224_L228delFs
c.670_682del13
1 paper
NM_023112.4
p.E169Q
c.505G>C
2 papers
NM_023112.4
p.D155N
c.463G>A
2 papers
NM_023112.4
p.R151Q
c.452G>A
1 paper
NM_023112.4
p.R146P
c.437G>C
1 paper
NM_023112.4
p.Q133*
c.397C>T
1 paper
NM_023112.4
p.R96K
c.287G>A
1 paper
NM_023112.4
p.K94R
c.281A>G
1 paper
NM_023112.4
p.V78I
c.232G>A
1 paper
NM_023112.4
p.Y60C
c.179A>G
3 papers
NM_023112.4
p.C51S
c.152G>C
3 papers
NM_023112.4
p.C51S
c.151T>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."