Varaico: Literature-Extracted Genetic Variants

Gene:CTSG
Variant:p.Q80insFs

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
2 papers
NM_001911.3
p.Q80insFs
c.238_239insG
Surrounding Variants
1 paper
NM_001911.3
p.N78H
c.232A>C
2 papers
NM_001911.3
p.A76T
c.226G>A
1 paper
NM_001911.3
p.G75D
c.224G>A
1 paper
NM_001911.3
p.T90insFs
c.268_269insT
1 paper
NM_001911.3
p.A91V
c.272C>T
2 papers
NM_001911.3
p.R92C
c.274C>T
1 paper
NM_001911.3
p.A94S
c.280G>T
1 paper
NM_001911.3
p.A94V
c.281C>T
1 paper
NM_001911.3
p.R96C
c.286C>T
1 paper
NM_001911.3
p.Q102*
c.304C>T
1 paper
NM_001911.3
p.Q102H
c.306G>C
2 papers
NM_001911.3
p.R103Q
c.308G>A
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