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.L136W

c.407T>G

Surrounding Variants

1 paper

NM_001244710.2

p.D131E

c.393C>G

1 paper

NM_001244710.2

p.T127A

c.379A>G

2 papers

NM_001244710.2

p.I126F

c.376A>T

1 paper

NM_001244710.2

p.N123D

c.367A>G

1 paper

NM_001244710.2

p.H122Y

c.364C>T

6 papers

NM_001244710.2

p.I121T

c.362T>C

1 paper

NM_001244710.2

p.I119I

c.357C>A

1 paper

NM_001244710.2

p.S145fs

c.433_434fs

1 paper

NM_001244710.2

p.E144_E146Fs

c.432_436delinsGFs

1 paper

NM_001244710.2

p.T147P

c.439A>C

4 papers

NM_001244710.2

p.T151K

c.452C>A

1 paper

NM_001244710.2

p.I152insFs

c.455_456insC