Varaico: Literature-Extracted Genetic Variants

Gene:GGT1

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
1–12 of 78 variants
6 papers
NM_001288833.2
p.C454F
c.1361G>T
5 papers
NM_001288833.2
p.G84S
c.250G>A
5 papers
NM_001288833.2
p.R107C
c.319C>T
5 papers
NM_001288833.2
p.V272A
c.815T>C
4 papers
NM_001288833.2
p.R355W
c.1063C>T
3 papers
NM_001288833.2
p.A42T
c.124G>A
3 papers
NM_001288833.2
p.A356S
c.1066G>T
3 papers
NM_001288833.2
p.D361H
c.1081G>C
3 papers
NM_001288833.2
p.A388T
c.1162G>A
3 papers
NM_001288833.2
p.V512I
c.1534G>A
2 papers
NM_001288833.2
p.L17V
c.49C>G
2 papers
NM_001288833.2
p.G21S
c.61G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."