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

6 papers

NM_001244710.2

p.R14Q

c.41G>A

Surrounding Variants

5 papers

NM_001244710.2

p.R14L

c.41G>T

9 papers

NM_001244710.2

p.T15A

c.43A>G

14 papers

NM_001244710.2

p.T15M

c.44C>T

2 papers

NM_001244710.2

p.V12V

c.36T>C

2 papers

NM_001244710.2

p.V12A

c.35T>C

1 paper

NM_001244710.2

p.V12D

c.35T>A

4 papers

NM_001244710.2

p.R17*

c.49C>T

1 paper

NM_001244710.2

p.N9ins5

c.25_26ins15

1 paper

NM_001244710.2

p.A6T

c.16G>A

4 papers

NM_001244710.2

p.F5L

c.15T>A

3 papers

NM_001244710.2

p.F5Y

c.14T>A

1 paper

NM_001244710.2

p.I4insFs

c.11dupT