Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.K113_T116del4

CTSC

251 papers

RefSeq Summary

This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system...

Pfam Domains

CathepsinC_excaa 25–141UCSCCathepsin C exclusion domain
Peptidase_C1aa 231–458UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin C

HGNC Alias Name

dipeptidyl peptidase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001814.6
p.K113_T116del4
c.337_347del12
Surrounding Variants
2 papers
NM_001814.6
p.T116T
c.348T>C
1 paper
NM_001814.6
p.T116S
c.347C>G
1 paper
NM_001814.6
p.T116S
c.346A>T
1 paper
NM_001814.6
p.N119S
c.356A>G
1 paper
NM_001814.6
p.E120_T121ins0
c.360_362dupGAC
1 paper
NM_001814.6
p.S112G
c.334A>G
1 paper
NM_001814.6
p.G124A
c.371G>C
1 paper
NM_001814.6
p.E109*
c.325G>T
2 papers
NM_001814.6
p.W125_V126insFs
c.375_376insGA
1 paper
NM_001814.6
p.V126M
c.376G>A
8 papers
NM_001814.6
p.K108*
c.322A>T
1 paper
NM_001814.6
p.Y107*
c.321T>G
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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."