Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.W298R

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
8 papers
NM_000396.4
p.W298R
c.892T>A
Surrounding Variants
10 papers
NM_000396.4
p.W298R
c.892T>C
1 paper
NM_000396.4
p.W298L
c.893G>T
1 paper
NM_000396.4
p.W298*
c.893G>A
1 paper
NM_000396.4
p.S297Splc
c.891-1G>T
1 paper
NM_000396.4
p.S297T
c.890G>C
3 papers
NM_000396.4
p.S297N
c.890G>A
1 paper
NM_000396.4
p.W298*
c.894G>A
1 paper
NM_000396.4
p.E300K
c.898G>A
1 paper
NM_000396.4
p.S297Splc
c.891-10G>A
3 papers
NM_000396.4
p.W302*
c.905G>A
1 paper
NM_000396.4
p.G303R
c.907G>A
9 papers
NM_000396.4
p.G303E
c.908G>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."