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.K236*

c.706A>T

Surrounding Variants

1 paper

NM_001244710.2

p.S235*

c.704C>G

1 paper

NM_001244710.2

p.S235*

c.704C>A

1 paper

NM_001244710.2

p.S235A

c.703T>G

1 paper

NM_001244710.2

p.I233insFs

c.699dupT

3 papers

NM_001244710.2

p.T238_R239insFs

c.714_715insA

1 paper

NM_001244710.2

p.R239insFs

c.716dupG

1 paper

NM_001244710.2

p.W240L

c.719G>T

7 papers

NM_001244710.2

p.W240*

c.719G>A

7 papers

NM_001244710.2

p.W240*

c.720G>A

3 papers

NM_001244710.2

p.G241insFs

c.722dupG

5 papers

NM_001244710.2

p.A229insFs

c.686dupC

5 papers

NM_001244710.2

p.A229Splc

c.686-1G>A