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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSO

Variant:p.A43V

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:155953720 G>A

NM_001334.3

p.A43V

c.128C>T

Exome: 0.1% (AC=653, hom=1)Genome: 0.0% (AC=32, hom=0)66 overlapping SVs

Surrounding Variants

1 paper

chr4:155953759 G>T

NM_001334.3

p.T30N

c.89C>A

Exome: 0.0% (AC=202, hom=1)Genome: 0.0% (AC=32, hom=0)66 overlapping SVs

1 paper

chr4:155953773 G>A

NM_001334.3

p.S25S

c.75C>T

Exome: 0.0% (AC=236, hom=2)Genome: 0.3% (AC=393, hom=0)66 overlapping SVs

1 paper

chr4:155953784 C>G

NM_001334.3

p.D22H

c.64G>C

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)66 overlapping SVs

1 paper

chr4:155953846 A>T

NM_001334.3

p.M1K

c.2T>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a66 overlapping SVs

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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."