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

8 papers

NM_000507.4

p.Q229*

c.685C>T

Surrounding Variants

1 paper

NM_000507.4

p.E226K

c.676G>A

1 paper

NM_000507.4

p.F233L

c.697T>C

4 papers

NM_000507.4

p.F233I

c.697T>A

1 paper

NM_000507.4

p.T225S

c.673A>T

1 paper

NM_000507.4

p.V224I

c.670G>A

2 papers

NM_000507.4

p.P235fs

c.703_704fs

1 paper

NM_000507.4

p.P235L

c.704C>T

1 paper

NM_000507.4

p.P235R

c.704C>G

1 paper

NM_000507.4

p.P235Q

c.704C>A

5 papers

NM_000507.4

p.P235_D236insFs

c.705_706insC

1 paper

NM_000507.4

p.P235fs

c.703_704fs

9 papers

NM_000507.4

p.P235delFs

c.704delG