Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.R46W

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
13 papers
NM_000396.4
p.R46W
c.136C>T
Surrounding Variants
1 paper
NM_000396.4
p.R46L
c.137G>T
7 papers
NM_000396.4
p.R47S
c.139C>A
3 papers
NM_000396.4
p.W50G
c.148T>G
1 paper
NM_000396.4
p.D42Y
c.124G>T
1 paper
NM_000396.4
p.W50*
c.149G>A
1 paper
NM_000396.4
p.V41E
c.122T>A
1 paper
NM_000396.4
p.E51K
c.151G>A
8 papers
NM_000396.4
p.K40_V41Splc
c.121-1G>A
11 papers
NM_000396.4
p.K52*
c.154A>T
1 paper
NM_000396.4
p.K52K
c.156A>G
2 papers
NM_000396.4
p.N53fs
c.157_158fs
1 paper
NM_000396.4
p.N53I
c.158A>T
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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."