Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.M264L

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.M264L
c.790A>C
Surrounding Variants
1 paper
NM_001814.6
p.M264L
c.790A>T
2 papers
NM_001814.6
p.L267P
c.800T>C
8 papers
NM_001814.6
p.S260P
c.778T>C
3 papers
NM_001814.6
p.E268K
c.802G>A
2 papers
NM_001814.6
p.Y259C
c.776A>G
2 papers
NM_001814.6
p.L267_E268del2
c.799_803del6
4 papers
NM_001814.6
p.C258W
c.774C>G
1 paper
NM_001814.6
p.C258*
c.774C>A
1 paper
NM_001814.6
p.R272C
c.814C>T
34 papers
NM_001814.6
p.R272P
c.815G>C
8 papers
NM_001814.6
p.R272H
c.815G>A
2 papers
NM_001814.6
p.C255S
c.764G>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."