Varaico: Literature-Extracted Genetic Variants

Gene:GFPT2
Variant:p.A94V

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.A94V
c.281C>T
Surrounding Variants
1 paper
NM_005110.4
p.P99_S100ins6
c.295_299ins18
1 paper
NM_005110.4
p.D77delFs
c.230_231delGT
1 paper
NM_005110.4
p.M76_D77delFs
c.226_230del5
1 paper
NM_005110.4
p.V102_D110del9
c.304_329del27
1 paper
NM_005110.4
p.M76V
c.226A>G
1 paper
NM_005110.4
p.K64M
c.191A>T
1 paper
NM_005110.4
p.H47H
c.141C>T
1 paper
NM_005110.4
p.G34_S37del4
c.100_110del12
1 paper
NM_005110.4
p.Y35S
c.104A>C
1 paper
NM_005110.4
p.E21*
c.61G>T
1 paper
NM_005110.4
p.V12_P13delFs
c.34_37del4
1 paper
NM_005110.4
p.Y10Y
c.30C>T
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