Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.L159V

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
1 paper
NM_000396.4
p.L159V
c.475C>G
Surrounding Variants
1 paper
NM_000396.4
p.L160fs
c.478_479fs
1 paper
NM_000396.4
p.G157D
c.470G>A
1 paper
NM_000396.4
p.L160F
c.480A>T
1 paper
NM_000396.4
p.L160F
c.480A>C
5 papers
NM_000396.4
p.L160_N161insFs
c.480_481insT
8 papers
NM_000396.4
p.Q165R
c.494A>G
1 paper
NM_000396.4
p.L152P
c.455T>C
9 papers
NM_000396.4
p.D169N
c.505G>A
2 papers
NM_000396.4
p.C170S
c.508T>A
1 paper
NM_000396.4
p.C170F
c.509G>T
2 papers
NM_000396.4
p.C170S
c.509G>C
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."