Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.F314S

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
4 papers
NM_001814.6
p.F314S
c.941T>C
Surrounding Variants
7 papers
NM_001814.6
p.L316R
c.947T>G
2 papers
NM_001814.6
p.L316P
c.947T>C
8 papers
NM_001814.6
p.Q312R
c.935A>G
1 paper
NM_001814.6
p.Y310Y
c.930C>T
10 papers
NM_001814.6
p.E319G
c.956A>G
5 papers
NM_001814.6
p.G308E
c.923G>A
1 paper
NM_001814.6
p.L305V
c.913C>G
5 papers
NM_001814.6
p.Y304*
c.912C>G
2 papers
NM_001814.6
p.Y304_L305insFs
c.912_913insA
9 papers
NM_001814.6
p.Y304*
c.912C>A
1 paper
NM_001814.6
p.Y324S
c.971A>C
10 papers
NM_001814.6
p.Y304N
c.910T>A
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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."