Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.G300D

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
14 papers
NM_001814.6
p.G300D
c.899G>A
Surrounding Variants
10 papers
NM_001814.6
p.G300S
c.898G>A
2 papers
NM_001814.6
p.G301C
c.901G>T
26 papers
NM_001814.6
p.G301S
c.901G>A
12 papers
NM_001814.6
p.G301V
c.902G>T
1 paper
NM_001814.6
p.G301A
c.902G>C
5 papers
NM_001814.6
p.G297V
c.890G>T
1 paper
NM_001814.6
p.G297D
c.890G>A
1 paper
NM_001814.6
p.G297Splc
c.890-1G>T
10 papers
NM_001814.6
p.Y304N
c.910T>A
5 papers
NM_001814.6
p.Y304*
c.912C>G
2 papers
NM_001814.6
p.Y304_L305insFs
c.912_913insA
9 papers
NM_001814.6
p.Y304*
c.912C>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."