Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.H208_R210delFs

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.H208_R210delFs
c.622_628del7
Surrounding Variants
1 paper
NM_001814.6
p.R210Q
c.629G>A
20 papers
NM_001814.6
p.R210*
c.628C>T
2 papers
NM_001814.6
p.R210fs
c.628_629fs
3 papers
NM_001814.6
p.R210delFs
c.629_630delTC
1 paper
NM_001814.6
p.H208fs
c.622_623fs
6 papers
NM_001814.6
p.H208insFs
c.622_623insC
1 paper
NM_001814.6
p.H208fs
c.622_623fs
1 paper
NM_001814.6
p.R214fs
c.640_641fs
1 paper
NM_001814.6
p.L198M
c.592C>A
1 paper
NM_001814.6
p.T197insFs
c.589dupA
1 paper
NM_001814.6
p.T197N
c.590C>A
1 paper
NM_001814.6
p.T197fs
c.589_590fs
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