Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.S329fs

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.S329fs
c.985_986fs
Surrounding Variants
1 paper
NM_001814.6
p.D328delFs
c.984delA
1 paper
NM_001814.6
p.D328N
c.982G>A
1 paper
NM_001814.6
p.D328_P330delFs
c.984_990del7
1 paper
NM_001814.6
p.C331fs
c.991_992fs
1 paper
NM_001814.6
p.Y324S
c.971A>C
1 paper
NM_001814.6
p.E335E
c.1005A>G
2 papers
NM_001814.6
p.C337S
c.1009T>A
2 papers
NM_001814.6
p.C337S
c.1010G>C
17 papers
NM_001814.6
p.R339C
c.1015C>T
2 papers
NM_001814.6
p.R339S
c.1015C>A
10 papers
NM_001814.6
p.E319G
c.956A>G
10 papers
NM_001814.6
p.Y340C
c.1019A>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."