Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.T100P

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
1 paper
NM_138348.6
p.T100P
c.298A>C
Surrounding Variants
12 papers
NM_138348.6
p.W96R
c.286T>A
12 papers
NM_138348.6
p.W96R
c.286T>C
1 paper
NM_138348.6
p.W96delins
c.286_287delinsGC
4 papers
NM_138348.6
p.E95*
c.283G>T
1 paper
NM_138348.6
p.K94R
c.281A>G
1 paper
NM_138348.6
p.C105*
c.315T>A
1 paper
NM_138348.6
p.M106V
c.316A>G
2 papers
NM_138348.6
p.Y91F
c.272A>T
1 paper
NM_138348.6
p.I88N
c.263T>A
7 papers
NM_138348.6
p.M86I
c.258G>A
7 papers
NM_138348.6
p.M86I
c.258G>C
7 papers
NM_138348.6
p.M86I
c.258G>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."