Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.W429*

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
10 papers
NM_001814.6
p.W429*
c.1287G>A
Surrounding Variants
5 papers
NM_001814.6
p.W429C
c.1287G>T
8 papers
NM_001814.6
p.W429C
c.1287G>C
15 papers
NM_001814.6
p.W429*
c.1286G>A
1 paper
NM_001814.6
p.S428_T431ins1
c.1282_1293dup12
2 papers
NM_001814.6
p.N427T
c.1280A>C
1 paper
NM_001814.6
p.W433L
c.1298G>T
6 papers
NM_001814.6
p.W423*
c.1269G>A
6 papers
NM_001814.6
p.W423S
c.1268G>C
3 papers
NM_001814.6
p.W423*
c.1268G>A
2 papers
NM_001814.6
p.D421insFs
c.1261_1262insTG
3 papers
NM_001814.6
p.R440Q
c.1319G>A
2 papers
NM_001814.6
p.R442C
c.1324C>T
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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."