Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.G242delFs

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.G242delFs
c.725delC
Surrounding Variants
2 papers
NM_001814.6
p.R238_G242delFs
c.712_725del14
1 paper
NM_001814.6
p.V240_H241insFs
c.720_721insT
3 papers
NM_001814.6
p.N239S
c.716A>G
1 paper
NM_001814.6
p.R238fs
c.712_713fs
1 paper
NM_001814.6
p.S247G
c.739A>G
6 papers
NM_001814.6
p.S247R
c.739A>C
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.W237fs
c.709_710fs
2 papers
NM_001814.6
p.W237*
c.711G>A
3 papers
NM_001814.6
p.W237*
c.710G>A
12 papers
NM_001814.6
p.V249F
c.745G>T
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