Varaico: Literature-Extracted Genetic Variants

Gene:CTSK
Variant:p.S271N

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.S271N
c.812G>A
Surrounding Variants
2 papers
NM_000396.4
p.D272N
c.814G>A
1 paper
NM_000396.4
p.C269R
c.805T>C
1 paper
NM_000396.4
p.D266_S268del3
c.796_803del9
1 paper
NM_000396.4
p.S268_C269insC
c.802_806ins3
2 papers
NM_000396.4
p.H276Y
c.826C>T
1 paper
NM_000396.4
p.H276H
c.828T>C
22 papers
NM_000396.4
p.A277V
c.830C>T
12 papers
NM_000396.4
p.A277E
c.830C>A
2 papers
NM_000396.4
p.A277A
c.831A>G
1 paper
NM_000396.4
p.L279S
c.836T>C
1 paper
NM_000396.4
p.V263A
c.788T>C
1 paper
NM_000396.4
p.G262Splc
c.785-1G>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."