Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.P43P

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
36 papers
NM_138348.6
p.P43P
c.129C>A
Surrounding Variants
4 papers
NM_138348.6
p.Q40R
c.119A>G
1 paper
NM_138348.6
p.E50G
c.149A>G
1 paper
NM_138348.6
p.D31V
c.92A>T
1 paper
NM_138348.6
p.W12delFs
c.35delG
1 paper
NM_138348.6
p.Q8K
c.22C>A
1 paper
NM_138348.6
p.Q8*
c.22C>T
1 paper
NM_138348.6
p.S2Fs
c.6delinsGCFs
2 papers
NM_138348.6
p.M1T
c.2T>C
1 paper
NM_138348.6
p.M1Fs
c.2delinsGCFs
1 paper
NM_138348.6
p.D54A
c.161A>C
1 paper
NM_138348.6
p.M55L
c.163A>C
1 paper
NM_138348.6
p.M55L
c.163A>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."