Varaico: Literature-Extracted Genetic Variants

Gene:CTSO

CTSO

30 papers

RefSeq Summary

The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme is involved in cellular protein degradation and turnover. The recombinant form ...

Pfam Domains

Peptidase_C1aa 108–320UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin O

HGNC Previous Symbol

CTSO1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
2 papers
NM_001334.3
p.V137M
c.409G>A
1 paper
NM_001334.3
p.M1K
c.2T>A
1 paper
NM_001334.3
p.D22H
c.64G>C
1 paper
NM_001334.3
p.S25S
c.75C>T
1 paper
NM_001334.3
p.T30N
c.89C>A
1 paper
NM_001334.3
p.A43V
c.128C>T
1 paper
NM_001334.3
p.T64S
c.190A>T
1 paper
NM_001334.3
p.T64S
c.191C>G
1 paper
NM_001334.3
p.A65S
c.193G>T
1 paper
NM_001334.3
p.S107Y
c.320C>A
1 paper
NM_001334.3
p.P109L
c.326C>T
1 paper
NM_001334.3
p.V123M
c.367G>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."