Varaico: Literature-Extracted Genetic Variants

Gene:GGT7
Variant:p.R289W

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
2 papers
NM_178026.3
p.R289W
c.865C>T
Surrounding Variants
1 paper
NM_178026.3
p.P281S
c.841C>T
1 paper
NM_178026.3
p.D309G
c.926A>G
1 paper
NM_178026.3
p.L333P
c.998T>C
1 paper
NM_178026.3
p.A259T
c.775G>A
2 papers
NM_178026.3
p.R248G
c.742A>G
2 papers
NM_178026.3
p.Y246H
c.736T>C
1 paper
NM_178026.3
p.Q244H
c.732G>T
1 paper
NM_178026.3
p.Q244H
c.732G>C
1 paper
NM_178026.3
p.K225_P226Splc
c.676-8T>A
1 paper
NM_178026.3
p.E216D
c.648G>T
1 paper
NM_178026.3
p.E216D
c.648G>C
1 paper
NM_178026.3
p.E207D
c.621G>T
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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."