Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.Y212C

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
12 papers
NM_000396.4
p.Y212C
c.635A>G
Surrounding Variants
2 papers
NM_000396.4
p.M211I
c.633G>T
2 papers
NM_000396.4
p.M211I
c.633G>C
2 papers
NM_000396.4
p.M211I
c.633G>A
1 paper
NM_000396.4
p.Y224H
c.670T>C
1 paper
NM_000396.4
p.G223delFs
c.669delC
1 paper
NM_000396.4
p.Y224F
c.671A>T
1 paper
NM_000396.4
p.Y224fs
c.670_671fs
1 paper
NM_000396.4
p.Y224_I227del4
c.670_680del12
1 paper
NM_000396.4
p.P228P
c.684C>A
1 paper
NM_000396.4
p.E229K
c.685G>A
1 paper
NM_000396.4
p.G230R
c.688G>C
1 paper
NM_000396.4
p.G230R
c.688G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."