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.Q76fs

c.226_227fs

Surrounding Variants

4 papers

NM_001244710.2

p.Q76fs

c.226_227fs

1 paper

NM_001244710.2

p.K75_Q76del1

c.224_226delGCT

1 paper

NM_001244710.2

p.I83M

c.249A>G

1 paper

NM_001244710.2

p.E84E

c.252A>G

1 paper

NM_001244710.2

p.L89P

c.266T>C

1 paper

NM_001244710.2

p.L89fs

c.265_266fs

1 paper

NM_001244710.2

p.H93L

c.278A>T

1 paper

NM_001244710.2

p.R95L

c.284G>T

16 papers

NM_001244710.2

p.R111C

c.331C>T

7 papers

NM_001244710.2

p.R111H

c.332G>A

5 papers

NM_001244710.2

p.D113G

c.338A>G

1 paper

NM_001244710.2

p.K114R

c.341A>G