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.H312Y

c.934C>T

Surrounding Variants

1 paper

NM_000507.4

p.Q313R

c.938A>G

1 paper

NM_000507.4

p.P308L

c.923C>T

3 papers

NM_000507.4

p.P308R

c.923C>G

1 paper

NM_000507.4

p.I318N

c.953T>A

1 paper

NM_000507.4

p.L304delFs

c.912delT

3 papers

NM_000507.4

p.L304insFs

c.910_911dupTT

1 paper

NM_000507.4

p.G320*

c.958G>T

5 papers

NM_000507.4

p.G320R

c.958G>C

6 papers

NM_000507.4

p.G320R

c.958G>A

1 paper

NM_000507.4

p.L304fs

c.910_911fs

4 papers

NM_000507.4

p.G320G

c.960A>G

2 papers

NM_000507.4

p.G320Fs

c.960delinsGGFs