Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.L152P

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.L152P
c.455T>C
Surrounding Variants
1 paper
NM_000396.4
p.G157D
c.470G>A
29 papers
NM_000396.4
p.G146R
c.436G>C
1 paper
NM_000396.4
p.L159V
c.475C>G
3 papers
NM_000396.4
p.V145M
c.433G>A
1 paper
NM_000396.4
p.L160fs
c.478_479fs
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.F142delFs
c.426delA
1 paper
NM_000396.4
p.F142fs
c.424_425fs
3 papers
NM_000396.4
p.F142L
c.426T>G
3 papers
NM_000396.4
p.F142L
c.426T>A
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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."