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

19 papers

NM_000507.4

p.G260R

c.778G>A

Surrounding Variants

1 paper

NM_000507.4

p.G260*

c.778G>T

16 papers

NM_000507.4

p.G260R

c.778G>C

1 paper

NM_000507.4

p.T256_Y259del0

c.766_777del12

1 paper

NM_000507.4

p.G260fs

c.778_779fs

1 paper

NM_000507.4

p.G260E

c.779G>A

1 paper

NM_000507.4

p.G260fs

c.778_779fs

2 papers

NM_000507.4

p.G260delFs

c.779delC

1 paper

NM_000507.4

p.G261A

c.782G>C

1 paper

NM_000507.4

p.G261E

c.782G>A

1 paper

NM_000507.4

p.L257V

c.769C>G

1 paper

NM_000507.4

p.R255C

c.763C>T

2 papers

NM_000507.4

p.H254R

c.761A>G