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

1–12 of 261 variants

17 papers

NM_001244710.2

p.A229Splc

c.686-2A>G

16 papers

NM_001244710.2

p.R111C

c.331C>T

14 papers

NM_001244710.2

p.T15M

c.44C>T

9 papers

NM_001244710.2

p.T15A

c.43A>G

8 papers

NM_001244710.2

p.V199F

c.595G>T

7 papers

NM_001244710.2

p.R111H

c.332G>A

7 papers

NM_001244710.2

p.W240*

c.719G>A

7 papers

NM_001244710.2

p.W240*

c.720G>A

6 papers

NM_001244710.2

p.R14Q

c.41G>A

6 papers

NM_001244710.2

p.I121T

c.362T>C

6 papers

NM_001244710.2

p.R202Splc

c.606-8A>G

5 papers

NM_001244710.2

p.R14L

c.41G>T