Varaico: Literature-Extracted Genetic Variants

Gene:GGT1
Variant:p.V512I

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
3 papers
NM_001288833.2
p.V512I
c.1534G>A
Surrounding Variants
1 paper
NM_001288833.2
p.P502S
c.1504C>T
1 paper
NM_001288833.2
p.Q521_A522Splc
c.1563+8G>A
1 paper
NM_001288833.2
p.V495M
c.1483G>A
1 paper
NM_001288833.2
p.Q521_A522Splc
c.1563+30A>T
1 paper
NM_001288833.2
p.Q521_A522Splc
c.1563+37G>T
6 papers
NM_001288833.2
p.C454F
c.1361G>T
2 papers
NM_001288833.2
p.Q448*
c.1342C>T
1 paper
NM_001288833.2
p.G446Splc
c.1337-8G>A
1 paper
NM_001288833.2
p.Q545K
c.1633C>A
1 paper
NM_001288833.2
p.V435V
c.1305A>G
1 paper
NM_001288833.2
p.V548I
c.1642G>A
2 papers
NM_001288833.2
p.S428N
c.1283G>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."