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.T147P

c.439A>C

Surrounding Variants

1 paper

NM_001244710.2

p.E144_E146Fs

c.432_436delinsGFs

1 paper

NM_001244710.2

p.S145fs

c.433_434fs

4 papers

NM_001244710.2

p.T151K

c.452C>A

1 paper

NM_001244710.2

p.I152insFs

c.455_456insC

1 paper

NM_001244710.2

p.A153V

c.458C>T

1 paper

NM_001244710.2

p.A153delFs

c.458_459delGG

1 paper

NM_001244710.2

p.K154R

c.461A>G

1 paper

NM_001244710.2

p.K154T

c.461A>C

3 papers

NM_001244710.2

p.K154N

c.462G>T

3 papers

NM_001244710.2

p.K154N

c.462G>C

1 paper

NM_001244710.2

p.Y158S

c.473A>C

1 paper

NM_001244710.2

p.Y160C

c.479A>G