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.M285L

c.853A>T

Surrounding Variants

1 paper

NM_000507.4

p.M285L

c.853A>C

10 papers

NM_000507.4

p.P284R

c.851C>G

1 paper

NM_000507.4

p.Y287*

c.861C>G

1 paper

NM_000507.4

p.Y287*

c.861C>A

11 papers

NM_000507.4

p.E281*

c.841G>T

23 papers

NM_000507.4

p.E281K

c.841G>A

4 papers

NM_000507.4

p.M289fs

c.865_866fs

2 papers

NM_000507.4

p.M289L

c.865A>T

2 papers

NM_000507.4

p.M289L

c.865A>C

4 papers

NM_000507.4

p.M289insFs

c.865dupA

1 paper

NM_000507.4

p.M289I

c.867G>T

1 paper

NM_000507.4

p.M289I

c.867G>C