Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.G282E

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.G282E
c.845G>A
Surrounding Variants
2 papers
NM_000396.4
p.Y283H
c.847T>C
1 paper
NM_000396.4
p.V281A
c.842T>C
5 papers
NM_000396.4
p.Y283C
c.848A>G
1 paper
NM_000396.4
p.L279S
c.836T>C
1 paper
NM_000396.4
p.Q286*
c.856C>T
2 papers
NM_000396.4
p.A277A
c.831A>G
22 papers
NM_000396.4
p.A277V
c.830C>T
12 papers
NM_000396.4
p.A277E
c.830C>A
1 paper
NM_000396.4
p.H276H
c.828T>C
2 papers
NM_000396.4
p.H276Y
c.826C>T
2 papers
NM_000396.4
p.N289fs
c.865_866fs
1 paper
NM_000396.4
p.N289delFs
c.866delT
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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."