Varaico: Literature-Extracted Genetic Variants

Gene:CTSC

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
1–12 of 319 variants
34 papers
NM_001814.6
p.R272P
c.815G>C
26 papers
NM_001814.6
p.G301S
c.901G>A
24 papers
NM_001814.6
p.Y347C
c.1040A>G
22 papers
NM_001814.6
p.I453V
c.1357A>G
20 papers
NM_001814.6
p.R210*
c.628C>T
19 papers
NM_001814.6
p.G139R
c.415G>A
19 papers
NM_001814.6
p.Q286R
c.857A>G
17 papers
NM_001814.6
p.Q252L
c.755A>T
17 papers
NM_001814.6
p.R339C
c.1015C>T
16 papers
NM_001814.6
p.G139R
c.415G>C
16 papers
NM_001814.6
p.L196P
c.587T>C
15 papers
NM_001814.6
p.Q286*
c.856C>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."