Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.K141M

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.K141M
c.422A>T
Surrounding Variants
1 paper
NM_001814.6
p.V142L
c.424G>T
1 paper
NM_001814.6
p.G139G
c.417A>T
1 paper
NM_001814.6
p.G139*
c.415G>T
16 papers
NM_001814.6
p.G139R
c.415G>C
19 papers
NM_001814.6
p.G139R
c.415G>A
6 papers
NM_001814.6
p.S146delFs
c.436delA
2 papers
NM_001814.6
p.S146fs
c.436_437fs
2 papers
NM_001814.6
p.W134*
c.401G>A
1 paper
NM_001814.6
p.N148_V149insFs
c.444_445ins4
2 papers
NM_001814.6
p.V149insFs
c.445_446ins4
2 papers
NM_001814.6
p.V149insFs
c.446_447ins4
1 paper
NM_001814.6
p.V149fs
c.445_446fs
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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."