Varaico: Literature-Extracted Genetic Variants

Gene:GGT1
Variant:p.I415L

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.I415L
c.1243A>C
Surrounding Variants
1 paper
NM_001288833.2
p.F417Y
c.1250T>A
2 papers
NM_001288833.2
p.P411P
c.1233G>A
1 paper
NM_001288833.2
p.E420Fs
c.1258_1259delinsGFs
1 paper
NM_001288833.2
p.G405D
c.1214G>A
2 papers
NM_001288833.2
p.S428N
c.1283G>A
1 paper
NM_001288833.2
p.V435V
c.1305A>G
1 paper
NM_001288833.2
p.G446Splc
c.1337-8G>A
2 papers
NM_001288833.2
p.Q448*
c.1342C>T
6 papers
NM_001288833.2
p.C454F
c.1361G>T
1 paper
NM_001288833.2
p.I400M
c.1200C>G
1 paper
NM_001288833.2
p.A396T
c.1186G>A
3 papers
NM_001288833.2
p.A388T
c.1162G>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."