Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.S284N

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
6 papers
NM_001814.6
p.S284N
c.851G>A
Surrounding Variants
1 paper
NM_001814.6
p.S284T
c.851G>C
1 paper
NM_001814.6
p.L283P
c.848T>C
8 papers
NM_001814.6
p.P285L
c.854C>T
15 papers
NM_001814.6
p.Q286*
c.856C>T
19 papers
NM_001814.6
p.Q286R
c.857A>G
1 paper
NM_001814.6
p.V289L
c.865G>T
1 paper
NM_001814.6
p.V289L
c.865G>C
9 papers
NM_001814.6
p.C291Y
c.872G>A
1 paper
NM_001814.6
p.N276D
c.826A>G
1 paper
NM_001814.6
p.T275T
c.825C>T
4 papers
NM_001814.6
p.T275I
c.824C>T
6 papers
NM_001814.6
p.Y294H
c.880T>C
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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."