Varaico: Literature-Extracted Genetic Variants

Gene:CTSG

CTSG

113 papers

RefSeq Summary

The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity simil...

Pfam Domains

Trypsinaa 21–238UCSCTrypsin

Gene Aliases

HGNC Name

cathepsin G

HGNC Alias Symbol

CG

Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
14 papers
NM_001911.3
p.N125S
c.374A>G
3 papers
NM_001911.3
p.A36V
c.107C>T
2 papers
NM_001911.3
p.A16D
c.47C>A
2 papers
NM_001911.3
p.A44T
c.130G>A
2 papers
NM_001911.3
p.A76T
c.226G>A
2 papers
NM_001911.3
p.Q80insFs
c.238_239insG
2 papers
NM_001911.3
p.R92C
c.274C>T
2 papers
NM_001911.3
p.R103Q
c.308G>A
2 papers
NM_001911.3
p.R160*
c.478C>T
2 papers
NM_001911.3
p.R239insFs
c.715_716insT
1 paper
NM_001911.3
p.M1V
c.1A>G
1 paper
NM_001911.3
p.M1R
c.2T>G
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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."