Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN

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
1–12 of 120 variants
36 papers
NM_138348.6
p.P43P
c.129C>A
27 papers
NM_138348.6
p.L272P
c.815T>C
19 papers
NM_138348.6
p.Y244C
c.731A>G
14 papers
NM_138348.6
p.G281R
c.841G>A
14 papers
NM_138348.6
p.G281R
c.841G>C
12 papers
NM_138348.6
p.W96R
c.286T>A
12 papers
NM_138348.6
p.W96R
c.286T>C
12 papers
NM_138348.6
p.C129S
c.385T>A
12 papers
NM_138348.6
p.C129S
c.386G>C
10 papers
NM_138348.6
p.Q115H
c.345G>C
10 papers
NM_138348.6
p.Q115H
c.345G>T
10 papers
NM_138348.6
p.G174fs
c.520_521fs
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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."