Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.K5K

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
2 papers
NM_000396.4
p.K5K
c.15G>A
Surrounding Variants
1 paper
NM_000396.4
p.V6F
c.16G>T
1 paper
NM_000396.4
p.K5Q
c.13A>C
1 paper
NM_000396.4
p.L7M
c.19C>A
1 paper
NM_000396.4
p.M1_V6del0
c.1_18del18
9 papers
NM_000396.4
p.L7P
c.20T>C
1 paper
NM_000396.4
p.G3R
c.7G>C
1 paper
NM_000396.4
p.G3R
c.7G>A
2 papers
NM_000396.4
p.W2*
c.6G>A
2 papers
NM_000396.4
p.W2*
c.5G>A
16 papers
NM_000396.4
p.L9P
c.26T>C
3 papers
NM_000396.4
p.M1I
c.3G>T
3 papers
NM_000396.4
p.M1I
c.3G>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."