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.R218K

c.653G>A

Surrounding Variants

2 papers

NM_000507.4

p.A217_R218delins

c.651_653delinsTAA

4 papers

NM_000507.4

p.A217A

c.651C>T

2 papers

NM_000507.4

p.F220fs

c.658_659fs

7 papers

NM_000507.4

p.Y216*

c.648C>G

6 papers

NM_000507.4

p.Y216*

c.648C>A

5 papers

NM_000507.4

p.F220delFs

c.658delA

1 paper

NM_000507.4

p.R218_D221Fs

c.652_661delinsTCACGAGGGCTFs

8 papers

NM_000507.4

p.N213K

c.639C>G

6 papers

NM_000507.4

p.N213K

c.639C>A

1 paper

NM_000507.4

p.V224I

c.670G>A

1 paper

NM_000507.4

p.T225S

c.673A>T

1 paper

NM_000507.4

p.E226K

c.676G>A