Varaico: Literature-Extracted Genetic Variants

Gene:GFPT2
Variant:p.I471V

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
5 papers
NM_005110.4
p.I471V
c.1411A>G
Surrounding Variants
1 paper
NM_005110.4
p.S475_T476delFs
c.1425_1426delTG
2 papers
NM_005110.4
p.V463I
c.1387G>A
1 paper
NM_005110.4
p.R457H
c.1370G>A
3 papers
NM_005110.4
p.I455L
c.1363A>C
1 paper
NM_005110.4
p.S454C
c.1361C>G
1 paper
NM_005110.4
p.G446_V447insTA
c.1336_1340ins6
1 paper
NM_005110.4
p.R440L
c.1319G>T
1 paper
NM_005110.4
p.K438K
c.1314G>A
1 paper
NM_005110.4
p.R435C
c.1303C>T
1 paper
NM_005110.4
p.T427S
c.1280C>G
1 paper
NM_005110.4
p.T427S
c.1279A>T
1 paper
NM_005110.4
p.K477_A478Splc
c.1431+387A>G
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