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

2 papers

NM_001244710.2

p.G196R

c.586G>A

Surrounding Variants

1 paper

NM_001244710.2

p.G196R

c.586G>C

1 paper

NM_001244710.2

p.Q197K

c.589C>A

3 papers

NM_001244710.2

p.F194S

c.581T>C

1 paper

NM_001244710.2

p.H193L

c.578A>T

1 paper

NM_001244710.2

p.H193R

c.578A>G

8 papers

NM_001244710.2

p.V199F

c.595G>T

1 paper

NM_001244710.2

p.K190*

c.568A>T

1 paper

NM_001244710.2

p.R202Splc

c.605+2T>C

1 paper

NM_001244710.2

p.V188V

c.564G>C

3 papers

NM_001244710.2

p.L181M

c.541T>A

2 papers

NM_001244710.2

p.Q180Q

c.540A>G

1 paper

NM_001244710.2

p.V174M

c.520G>A