Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.C129S

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
12 papers
NM_138348.6
p.C129S
c.385T>A
Surrounding Variants
1 paper
NM_138348.6
p.C129delins
c.385_386delinsGC
12 papers
NM_138348.6
p.C129S
c.386G>C
1 paper
NM_138348.6
p.C129C
c.387T>C
10 papers
NM_138348.6
p.Q115H
c.345G>C
10 papers
NM_138348.6
p.Q115H
c.345G>T
1 paper
NM_138348.6
p.P146S
c.436C>T
3 papers
NM_138348.6
p.P147S
c.439C>T
1 paper
NM_138348.6
p.W148fs
c.442_443fs
1 paper
NM_138348.6
p.W148*
c.443G>A
1 paper
NM_138348.6
p.W148*
c.444G>A
1 paper
NM_138348.6
p.M108_G109Splc
c.325-2A>G
3 papers
NM_138348.6
p.P152L
c.455C>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."