Varaico: Literature-Extracted Genetic Variants

Gene:GGT1
Variant:p.G379R

GGT1

93 papers

RefSeq Summary

The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme ...

Pfam Domains

G_glu_transpeptaa 50–569UCSCGamma-glutamyltranspeptidase

Gene Aliases

HGNC Name

gamma-glutamyltransferase 1

HGNC Alias Symbols

D22S672; D22S732; CD224

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001288833.2
p.G379R
c.1135G>C
Surrounding Variants
1 paper
NM_001288833.2
p.G379R
c.1135G>A
1 paper
NM_001288833.2
p.D377fs
c.1129_1130fs
2 papers
NM_001288833.2
p.V387I
c.1159G>A
3 papers
NM_001288833.2
p.A388T
c.1162G>A
1 paper
NM_001288833.2
p.P365L
c.1094C>T
1 paper
NM_001288833.2
p.P365T
c.1093C>A
1 paper
NM_001288833.2
p.A396T
c.1186G>A
1 paper
NM_001288833.2
p.D361N
c.1081G>A
3 papers
NM_001288833.2
p.D361H
c.1081G>C
1 paper
NM_001288833.2
p.S359C
c.1076C>G
1 paper
NM_001288833.2
p.I400M
c.1200C>G
3 papers
NM_001288833.2
p.A356S
c.1066G>T
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