Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.K52K

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.K52K
c.156A>G
Surrounding Variants
2 papers
NM_000396.4
p.N53fs
c.157_158fs
11 papers
NM_000396.4
p.K52*
c.154A>T
1 paper
NM_000396.4
p.N53I
c.158A>T
1 paper
NM_000396.4
p.N53T
c.158A>C
2 papers
NM_000396.4
p.N53K
c.159C>G
2 papers
NM_000396.4
p.N53K
c.159C>A
2 papers
NM_000396.4
p.N53delFs
c.158delT
1 paper
NM_000396.4
p.E51K
c.151G>A
1 paper
NM_000396.4
p.W50*
c.149G>A
3 papers
NM_000396.4
p.W50G
c.148T>G
3 papers
NM_000396.4
p.K55T
c.164A>C
1 paper
NM_000396.4
p.I57V
c.169A>G
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."