Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.V175L

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.V175L
c.523G>C
Surrounding Variants
1 paper
NM_001814.6
p.V175L
c.523G>T
1 paper
NM_001814.6
p.N173_F174insT
c.517_521ins3
6 papers
NM_001814.6
p.Y168*
c.504C>G
4 papers
NM_001814.6
p.Y168*
c.504C>A
5 papers
NM_001814.6
p.Y168C
c.503A>G
4 papers
NM_001814.6
p.Q182*
c.544C>T
8 papers
NM_001814.6
p.W185*
c.554G>A
10 papers
NM_001814.6
p.W185*
c.555G>A
9 papers
NM_001814.6
p.K162Splc
c.486-1G>A
4 papers
NM_001814.6
p.T189A
c.565A>G
3 papers
NM_001814.6
p.T189fs
c.565_566fs
2 papers
NM_001814.6
p.Y190_M191insA
c.568_572ins3
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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."