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

1–12 of 255 variants

24 papers

NM_000507.4

p.G164S

c.490G>A

23 papers

NM_000507.4

p.E281K

c.841G>A

23 papers

NM_000507.4

p.G320insFs

c.959dupG

22 papers

NM_000507.4

p.R158W

c.472C>T

19 papers

NM_000507.4

p.G260R

c.778G>A

16 papers

NM_000507.4

p.G260R

c.778G>C

11 papers

NM_000507.4

p.A177D

c.530C>A

11 papers

NM_000507.4

p.F194S

c.581T>C

11 papers

NM_000507.4

p.E281*

c.841G>T

10 papers

NM_000507.4

p.P284R

c.851C>G

10 papers

NM_000507.4

p.G294E

c.881G>A

9 papers

NM_000507.4

p.P235delFs

c.704delG