Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.D80delFs

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.D80delFs
c.238delC
Surrounding Variants
9 papers
NM_000396.4
p.D80Y
c.238G>T
19 papers
NM_000396.4
p.G79E
c.236G>A
8 papers
NM_000396.4
p.G79R
c.235G>C
10 papers
NM_000396.4
p.G79R
c.235G>A
1 paper
NM_000396.4
p.M75_N76delFs
c.224_227del4
1 paper
NM_000396.4
p.M75T
c.224T>C
1 paper
NM_000396.4
p.L66_L73del0
c.198_218del21
1 paper
NM_000396.4
p.E72K
c.214G>A
1 paper
NM_000396.4
p.Y71delFs
c.213delA
1 paper
NM_000396.4
p.Y71*
c.213T>G
1 paper
NM_000396.4
p.Y71*
c.213T>A
1 paper
NM_000396.4
p.Y71S
c.212A>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."