Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.E401K

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
3 papers
NM_001814.6
p.E401K
c.1201G>A
Surrounding Variants
2 papers
NM_001814.6
p.T403insFs
c.1208_1209insT
1 paper
NM_001814.6
p.N398S
c.1193A>G
1 paper
NM_001814.6
p.N404fs
c.1210_1211fs
2 papers
NM_001814.6
p.N404fs
c.1210_1211fs
2 papers
NM_001814.6
p.N404delFs
c.1211delT
5 papers
NM_001814.6
p.H405N
c.1213C>A
1 paper
NM_001814.6
p.N404delFs
c.1211_1212delAT
5 papers
NM_001814.6
p.H405R
c.1214A>G
1 paper
NM_001814.6
p.H405fs
c.1213_1214fs
3 papers
NM_001814.6
p.H405del1
c.1213_1214delATG
1 paper
NM_001814.6
p.D395H
c.1183G>C
1 paper
NM_001814.6
p.R394T
c.1181G>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."