Varaico: Literature-Extracted Genetic Variants

GFPT1

181 papers

RefSeq Summary

This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosa...

Pfam Domains

GATase_6aa 75–206UCSCGlutamine amidotransferase domain

SISaa 380–509UCSCSIS domain

SISaa 551–682UCSCSIS domain

Gene Aliases

HGNC Name

glutamine--fructose-6-phosphate transaminase 1

HGNC Alias Symbols

GFAT; GFA; GFAT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001244710.2

p.I222I

c.666T>C

Surrounding Variants

3 papers

NM_001244710.2

p.I222_P223insA

c.664_668ins3

1 paper

NM_001244710.2

p.I224K

c.671T>A

1 paper

NM_001244710.2

p.L225L

c.675C>T

1 paper

NM_001244710.2

p.R227*

c.679A>T

1 paper

NM_001244710.2

p.S218A

c.652T>G

1 paper

NM_001244710.2

p.S218P

c.652T>C

1 paper

NM_001244710.2

p.I224_Y226del3

c.670_677del9

1 paper

NM_001244710.2

p.K216R

c.647A>G

2 papers

NM_001244710.2

p.R212Q

c.635G>A

1 paper

NM_001244710.2

p.R212G

c.634C>G

4 papers

NM_001244710.2

p.L208fs

c.622_623fs

1 paper

NM_001244710.2

p.L208*

c.623T>A