Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.S246fs

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.S246fs
c.736_737fs
Surrounding Variants
4 papers
NM_000396.4
p.S246delFs
c.737_738delAG
7 papers
NM_000396.4
p.G243E
c.728G>A
13 papers
NM_000396.4
p.I249T
c.746T>C
3 papers
NM_000396.4
p.I249N
c.746T>A
8 papers
NM_000396.4
p.D250G
c.749A>G
33 papers
NM_000396.4
p.R241*
c.721C>T
4 papers
NM_000396.4
p.S252N
c.755G>A
1 paper
NM_000396.4
p.S255insFs
c.764dupC
1 paper
NM_000396.4
p.T254_S255del1
c.761_763delAGG
1 paper
NM_000396.4
p.L235P
c.704T>C
1 paper
NM_000396.4
p.G230R
c.688G>C
1 paper
NM_000396.4
p.G230R
c.688G>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."