Varaico: Literature-Extracted Genetic Variants

Gene:GGT1
Variant:p.L15R

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.L15R
c.44T>G
Surrounding Variants
2 papers
NM_001288833.2
p.L17V
c.49C>G
1 paper
NM_001288833.2
p.V20V
c.60C>T
2 papers
NM_001288833.2
p.G21S
c.61G>A
2 papers
NM_001288833.2
p.G21D
c.62G>A
1 paper
NM_001288833.2
p.L10_A12del3
c.28_35del9
1 paper
NM_001288833.2
p.L10_V18del0
c.28_54del27
1 paper
NM_001288833.2
p.G21G
c.63C>T
1 paper
NM_001288833.2
p.K4del1
c.10_11delAAG
3 papers
NM_001288833.2
p.A42T
c.124G>A
1 paper
NM_001288833.2
p.S51L
c.152C>T
1 paper
NM_001288833.2
p.A57T
c.169G>A
1 paper
NM_001288833.2
p.G61A
c.182G>C
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