Varaico: Literature-Extracted Genetic Variants

Gene:GFPT2
Variant:p.I591F

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
1 paper
NM_005110.4
p.I591F
c.1771A>T
Surrounding Variants
1 paper
NM_005110.4
p.I591I
c.1773C>T
1 paper
NM_005110.4
p.P589L
c.1766C>T
1 paper
NM_005110.4
p.P580T
c.1738C>A
1 paper
NM_005110.4
p.I571N
c.1712T>A
1 paper
NM_005110.4
p.R613C
c.1837C>T
1 paper
NM_005110.4
p.C621F
c.1862G>T
1 paper
NM_005110.4
p.I636I
c.1908T>C
1 paper
NM_005110.4
p.Y550Y
c.1650T>C
1 paper
NM_005110.4
p.R546W
c.1636C>T
1 paper
NM_005110.4
p.S540S
c.1620G>C
1 paper
NM_005110.4
p.L531S
c.1592T>C
1 paper
NM_005110.4
p.R673G
c.2017A>G
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