Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.Q252L

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
17 papers
NM_001814.6
p.Q252L
c.755A>T
Surrounding Variants
4 papers
NM_001814.6
p.Q252*
c.754C>T
6 papers
NM_001814.6
p.A253T
c.757G>A
2 papers
NM_001814.6
p.A253Splc
c.757+1G>T
2 papers
NM_001814.6
p.A253Splc
c.757+1G>A
1 paper
NM_001814.6
p.R250Q
c.749G>A
14 papers
NM_001814.6
p.R250*
c.748C>T
12 papers
NM_001814.6
p.V249F
c.745G>T
2 papers
NM_001814.6
p.S247R
c.741T>G
2 papers
NM_001814.6
p.S247R
c.741T>A
1 paper
NM_001814.6
p.S247G
c.739A>G
6 papers
NM_001814.6
p.S247R
c.739A>C
1 paper
NM_001814.6
p.G242delFs
c.725delC
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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."