Varaico: Literature-Extracted Genetic Variants

Gene:GFPT2
Variant:p.T309I

GFPT2

71 papers

Pfam Domains

GATase_6aa 73–212UCSCGlutamine amidotransferase domain
SISaa 363–492UCSCSIS domain
SISaa 534–665UCSCSIS domain

Gene Aliases

HGNC Name

glutamine--fructose-6-phosphate transaminase 2

HGNC Alias Symbol

GFAT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005110.4
p.T309I
c.926C>T
Surrounding Variants
1 paper
NM_005110.4
p.R297H
c.890G>A
1 paper
NM_005110.4
p.K296N
c.888G>T
1 paper
NM_005110.4
p.K296N
c.888G>C
1 paper
NM_005110.4
p.R294Q
c.881G>A
1 paper
NM_005110.4
p.A284T
c.850G>A
1 paper
NM_005110.4
p.E278K
c.832G>A
1 paper
NM_005110.4
p.E329K
c.985G>A
1 paper
NM_005110.4
p.E329del1
c.985_986delCTC
1 paper
NM_005110.4
p.E329_I330delFs
c.987_988delTC
1 paper
NM_005110.4
p.S336S
c.1008A>C
1 paper
NM_005110.4
p.R366*
c.1096C>T
2 papers
NM_005110.4
p.R366Q
c.1097G>A
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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."