Varaico: Literature-Extracted Genetic Variants

Gene:CTSG
Variant:p.Q113_L114Splc

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
Selected Variant
1 paper
NM_001911.3
p.Q113_L114Splc
c.340-2A>C
Surrounding Variants
1 paper
NM_001911.3
p.R119G
c.355A>G
14 papers
NM_001911.3
p.N125S
c.374A>G
1 paper
NM_001911.3
p.R131insFs
c.391_392ins4
1 paper
NM_001911.3
p.R131insFs
c.392_393ins4
1 paper
NM_001911.3
p.R137R
c.409A>C
1 paper
NM_001911.3
p.T140K
c.419C>A
1 paper
NM_001911.3
p.T140_C142delFs
c.420_426del7
1 paper
NM_001911.3
p.W147*
c.440G>A
1 paper
NM_001911.3
p.R154K
c.461G>A
1 paper
NM_001911.3
p.R154Fs
c.462delinsAGFs
1 paper
NM_001911.3
p.R154_G155insFs
c.462_463insGT
2 papers
NM_001911.3
p.R160*
c.478C>T
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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."