Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.Y229*

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.Y229*
c.687T>A
Surrounding Variants
1 paper
NM_138348.6
p.Y229*
c.687T>G
1 paper
NM_138348.6
p.E230K
c.688G>A
1 paper
NM_138348.6
p.S227N
c.680G>A
1 paper
NM_138348.6
p.A240T
c.718G>A
1 paper
NM_138348.6
p.A240G
c.719C>G
4 papers
NM_138348.6
p.A240V
c.719C>T
1 paper
NM_138348.6
p.E242K
c.724G>A
19 papers
NM_138348.6
p.Y244C
c.731A>G
4 papers
NM_138348.6
p.D246V
c.737A>T
1 paper
NM_138348.6
p.K247_E248delFs
c.740_743del4
1 paper
NM_138348.6
p.Q212R
c.635A>G
1 paper
NM_138348.6
p.G250E
c.749G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."