Varaico: Literature-Extracted Genetic Variants

Gene:GGT7
Variant:p.N394S

GGT7

39 papers

RefSeq Summary

This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransfer...

Pfam Domains

G_glu_transpeptaa 149–660UCSCGamma-glutamyltranspeptidase

Gene Aliases

HGNC Name

gamma-glutamyltransferase 7

HGNC Previous Symbols

GGTL5; GGTL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178026.3
p.N394S
c.1181A>G
Surrounding Variants
1 paper
NM_178026.3
p.G368Splc
c.1103-4T>C
1 paper
NM_178026.3
p.D428G
c.1283A>G
1 paper
NM_178026.3
p.I431T
c.1292T>C
1 paper
NM_178026.3
p.E348K
c.1042G>A
1 paper
NM_178026.3
p.A445G
c.1334C>G
2 papers
NM_178026.3
p.D453H
c.1357G>C
1 paper
NM_178026.3
p.D453D
c.1359C>T
2 papers
NM_178026.3
p.P463A
c.1387C>G
1 paper
NM_178026.3
p.T472T
c.1416G>A
2 papers
NM_178026.3
p.G480E
c.1439G>A
1 paper
NM_178026.3
p.S491F
c.1472C>T
1 paper
NM_178026.3
p.L492delFs
c.1474delG
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