Varaico: Literature-Extracted Genetic Variants

FBP1

151 papers

RefSeq Summary

Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase de...

Pfam Domains

FBPaseaa 12–199UCSCFructose-1-6-bisphosphatase, N-terminal domain

FBPase_Caa 203–333UCSCFructose-1-6-bisphosphatase, C-terminal domain

Gene Aliases

HGNC Name

fructose-bisphosphatase 1

HGNC Previous Name

fructose-1,6-bisphosphatase 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000507.4

p.G294R

c.880G>A

Surrounding Variants

1 paper

NM_000507.4

p.G294R

c.880G>C

2 papers

NM_000507.4

p.G294fs

c.880_881fs

6 papers

NM_000507.4

p.G294V

c.881G>T

10 papers

NM_000507.4

p.G294E

c.881G>A

2 papers

NM_000507.4

p.G294delFs

c.881delC

1 paper

NM_000507.4

p.T297A

c.889A>G

1 paper

NM_000507.4

p.M289I

c.867G>T

1 paper

NM_000507.4

p.M289I

c.867G>C

1 paper

NM_000507.4

p.M289I

c.867G>A

1 paper

NM_000507.4

p.M295_T297del3

c.883_890del9

4 papers

NM_000507.4

p.M289insFs

c.865dupA

4 papers

NM_000507.4

p.M289fs

c.865_866fs