Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.L272P

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
27 papers
NM_138348.6
p.L272P
c.815T>C
Surrounding Variants
1 paper
NM_138348.6
p.Q271*
c.811C>T
1 paper
NM_138348.6
p.R274W
c.820A>T
2 papers
NM_138348.6
p.D268fs
c.802_803fs
1 paper
NM_138348.6
p.D268delFs
c.802delG
14 papers
NM_138348.6
p.G281R
c.841G>A
14 papers
NM_138348.6
p.G281R
c.841G>C
6 papers
NM_138348.6
p.R263Q
c.788G>A
1 paper
NM_138348.6
p.R263W
c.787C>T
1 paper
NM_138348.6
p.R263del1
c.787_788delCGG
1 paper
NM_138348.6
p.T283I
c.848C>T
1 paper
NM_138348.6
p.L259delins
c.775_777delinsGAA
1 paper
NM_138348.6
p.L259delins
c.775_777delinsGAG
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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."