Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.I21T

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.I21T
c.62T>C
Surrounding Variants
5 papers
NM_000396.4
p.E20_I21insFs
c.60_61dupGA
1 paper
NM_000396.4
p.W26L
c.77G>T
1 paper
NM_000396.4
p.W26*
c.77G>A
1 paper
NM_000396.4
p.L16fs
c.46_47fs
1 paper
NM_000396.4
p.E27A
c.80A>C
1 paper
NM_000396.4
p.E27D
c.81G>T
1 paper
NM_000396.4
p.E27D
c.81G>C
1 paper
NM_000396.4
p.F14V
c.40T>G
4 papers
NM_000396.4
p.L28insFs
c.83dupT
2 papers
NM_000396.4
p.W29fs
c.85_86fs
1 paper
NM_000396.4
p.W29*
c.86G>A
4 papers
NM_000396.4
p.W29*
c.87G>A
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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."