Varaico: Literature-Extracted Genetic Variants

Gene:CTSS
Variant:p.A16A

CTSS

114 papers

RefSeq Summary

The preproprotein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that participates in the degradation of antigenic proteins to peptides for presentation ...

Pfam Domains

Inhibitor_I29aa 28–88UCSCCathepsin propeptide inhibitor domain (I29)
Peptidase_C1aa 115–330UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin S

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004079.5
p.A16A
c.48A>G
Surrounding Variants
1 paper
NM_004079.5
p.A14A
c.42A>T
1 paper
NM_004079.5
p.A14V
c.41C>T
1 paper
NM_004079.5
p.A14P
c.40G>C
2 papers
NM_004079.5
p.A14T
c.40G>A
1 paper
NM_004079.5
p.L9W
c.26T>G
1 paper
NM_004079.5
p.D25H
c.73G>C
1 paper
NM_004079.5
p.D25N
c.73G>A
9 papers
NM_004079.5
p.V7A
c.20T>C
1 paper
NM_004079.5
p.C6S
c.17G>C
1 paper
NM_004079.5
p.C6S
c.16T>A
1 paper
NM_004079.5
p.K2R
c.5A>G
2 papers
NM_004079.5
p.W31*
c.93G>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."