Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.I70T

OTULIN

134 papers

RefSeq Summary

This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1...

Pfam Domains

Peptidase_C101aa 80–344UCSCPeptidase family C101

Gene Aliases

HGNC Name

OTU deubiquitinase with linear linkage specificity

HGNC Previous Symbol

FAM105B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_138348.6
p.I70T
c.209T>C
Surrounding Variants
1 paper
NM_138348.6
p.G74V
c.221G>T
1 paper
NM_138348.6
p.S76L
c.227C>T
1 paper
NM_138348.6
p.E77Q
c.229G>C
1 paper
NM_138348.6
p.R57H
c.170G>A
4 papers
NM_138348.6
p.Y56F
c.167A>T
1 paper
NM_138348.6
p.M55L
c.163A>C
1 paper
NM_138348.6
p.M55L
c.163A>T
1 paper
NM_138348.6
p.D54A
c.161A>C
1 paper
NM_138348.6
p.E77Splc
c.230-15T>A
1 paper
NM_138348.6
p.E77fs
c.229_230fs
3 papers
NM_138348.6
p.V82I
c.244G>A
1 paper
NM_138348.6
p.E85V
c.254A>T
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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."