Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.Q187P

CTSK

218 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly exp...

Pfam Domains

Inhibitor_I29aa 26–86UCSCCathepsin propeptide inhibitor domain (I29)
Peptidase_C1aa 115–328UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin K

HGNC Previous Symbols

CTSO2; PYCD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_000396.4
p.Q187P
c.560A>C
Surrounding Variants
11 papers
NM_000396.4
p.Q190*
c.568C>T
1 paper
NM_000396.4
p.K191E
c.571A>G
3 papers
NM_000396.4
p.R193W
c.577C>T
1 paper
NM_000396.4
p.Y181H
c.541T>C
9 papers
NM_000396.4
p.G194S
c.580G>A
2 papers
NM_000396.4
p.G180S
c.538G>A
1 paper
NM_000396.4
p.G178*
c.532G>T
1 paper
NM_000396.4
p.C177delFs
c.531delA
1 paper
NM_000396.4
p.C177R
c.529T>C
3 papers
NM_000396.4
p.G176C
c.526G>T
1 paper
NM_000396.4
p.S172delFs
c.514delA
1 paper
NM_000396.4
p.S172A
c.514T>G
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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."