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.A153D

c.458C>A

Surrounding Variants

1 paper

NM_000507.4

p.A153fs

c.457_458fs

1 paper

NM_000507.4

p.L154L

c.460C>T

1 paper

NM_000507.4

p.L154P

c.461T>C

1 paper

NM_000507.4

p.G157R

c.469G>C

22 papers

NM_000507.4

p.R158W

c.472C>T

1 paper

NM_000507.4

p.A153_R158delFs

c.458_473del16

1 paper

NM_000507.4

p.N159del1

c.475_477delGTT

1 paper

NM_000507.4

p.K143E

c.427A>G

24 papers

NM_000507.4

p.G164S

c.490G>A

1 paper

NM_000507.4

p.G164A

c.491G>C

2 papers

NM_000507.4

p.G164D

c.491G>A

1 paper

NM_000507.4

p.K142_K143Splc

c.427-2A>G