Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.E447G

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.E447G
c.1340A>G
Surrounding Variants
1 paper
NM_001814.6
p.E447A
c.1340A>C
1 paper
NM_001814.6
p.E447*
c.1339G>T
1 paper
NM_001814.6
p.C448Y
c.1343G>A
6 papers
NM_001814.6
p.D446A
c.1337A>C
2 papers
NM_001814.6
p.T445_D446ins4
c.1333_1337ins12
1 paper
NM_001814.6
p.G444Fs
c.1331delinsAAAAAFs
1 paper
NM_001814.6
p.G444fs
c.1330_1331fs
1 paper
NM_001814.6
p.R442L
c.1325G>T
2 papers
NM_001814.6
p.R442C
c.1324C>T
22 papers
NM_001814.6
p.I453V
c.1357A>G
3 papers
NM_001814.6
p.S452delFs
c.1356delG
3 papers
NM_001814.6
p.R440Q
c.1319G>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."