Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.S163R

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.S163R
c.487A>C
Surrounding Variants
1 paper
NM_138348.6
p.S163R
c.489C>A
1 paper
NM_138348.6
p.S163R
c.489C>G
1 paper
NM_138348.6
p.K160*
c.478A>T
7 papers
NM_138348.6
p.W167S
c.500G>C
8 papers
NM_138348.6
p.L173delFs
c.517delC
1 paper
NM_138348.6
p.G174fs
c.520_521fs
10 papers
NM_138348.6
p.G174fs
c.520_521fs
4 papers
NM_138348.6
p.V185F
c.553G>T
1 paper
NM_138348.6
p.E190E
c.570G>A
3 papers
NM_138348.6
p.W199R
c.595T>A
3 papers
NM_138348.6
p.W199R
c.595T>C
1 paper
NM_138348.6
p.A200T
c.598G>A
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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."