Varaico: Literature-Extracted Genetic Variants

Gene:CTSS
Variant:p.Y132D

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
8 papers
NM_004079.5
p.Y132D
c.394T>G
Surrounding Variants
1 paper
NM_004079.5
p.W121*
c.363G>A
1 paper
NM_004079.5
p.W121*
c.362G>A
1 paper
NM_004079.5
p.D120E
c.360C>G
1 paper
NM_004079.5
p.D120E
c.360C>A
1 paper
NM_004079.5
p.D117E
c.351T>G
1 paper
NM_004079.5
p.D117E
c.351T>A
15 papers
NM_004079.5
p.R113W
c.337C>T
1 paper
NM_004079.5
p.N112T
c.335A>C
1 paper
NM_004079.5
p.P111H
c.332C>A
1 paper
NM_004079.5
p.I105insFs
c.315dupC
1 paper
NM_004079.5
p.I105T
c.314T>C
1 paper
NM_004079.5
p.R103K
c.308G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."