Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.H346insFs

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.H346insFs
c.1036_1037insG
Surrounding Variants
24 papers
NM_001814.6
p.Y347C
c.1040A>G
3 papers
NM_001814.6
p.S343delFs
c.1028_1029delAG
1 paper
NM_001814.6
p.S343fs
c.1027_1028fs
1 paper
NM_001814.6
p.G349fs
c.1045_1046fs
7 papers
NM_001814.6
p.G349delFs
c.1047delT
1 paper
NM_001814.6
p.G350fs
c.1048_1049fs
10 papers
NM_001814.6
p.Y340C
c.1019A>G
1 paper
NM_001814.6
p.Y352insFs
c.1054dupT
2 papers
NM_001814.6
p.Y352fs
c.1054_1055fs
1 paper
NM_001814.6
p.Y352*
c.1056T>G
1 paper
NM_001814.6
p.Y352*
c.1056T>A
6 papers
NM_001814.6
p.Y352delFs
c.1056delA
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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."