Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.*330W

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
15 papers
NM_000396.4
p.*330W
c.990A>G
Surrounding Variants
1 paper
NM_000396.4
p.L323P
c.968T>C
1 paper
NM_000396.4
p.A321G
c.962C>G
9 papers
NM_000396.4
p.G319C
c.955G>T
1 paper
NM_000396.4
p.C318W
c.954T>G
15 papers
NM_000396.4
p.C318Y
c.953G>A
1 paper
NM_000396.4
p.K314_A317del4
c.940_950del12
1 paper
NM_000396.4
p.N313S
c.938A>G
8 papers
NM_000396.4
p.R312*
c.934C>T
13 papers
NM_000396.4
p.R312G
c.934C>G
9 papers
NM_000396.4
p.A311P
c.931G>C
1 paper
NM_000396.4
p.M310L
c.928A>T
1 paper
NM_000396.4
p.M310L
c.928A>C
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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."