Varaico: Literature-Extracted Genetic Variants

Gene:GGT6
Variant:p.Q259*

GGT6

25 papers

RefSeq Summary

GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides an...

Pfam Domains

G_glu_transpeptaa 112–269UCSCGamma-glutamyltranspeptidase

Gene Aliases

HGNC Name

gamma-glutamyltransferase 6

HGNC Alias Symbol

FLJ90165

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001288702.2
p.Q259*
c.775C>T
Surrounding Variants
1 paper
NM_001288702.2
p.P248S
c.742C>T
1 paper
NM_001288702.2
p.R232_G233insFs
c.696_697dupGG
1 paper
NM_001288702.2
p.Q216*
c.646C>T
1 paper
NM_001288702.2
p.Q306H
c.918G>T
1 paper
NM_001288702.2
p.Q306H
c.918G>C
1 paper
NM_001288702.2
p.Q311*
c.931C>T
1 paper
NM_001288702.2
p.T316T
c.948C>T
1 paper
NM_001288702.2
p.F347S
c.1040T>C
1 paper
NM_001288702.2
p.T169M
c.506C>T
1 paper
NM_153338.4
p.S349G
c.1045A>G
1 paper
NM_001288702.2
p.P448L
c.1343C>T
1 paper
NM_001288702.2
p.A492T
c.1474G>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."