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

5 papers

NM_000507.4

p.P240_A243delFs

c.720_729del10

Surrounding Variants

7 papers

NM_000507.4

p.R244W

c.730C>T

1 paper

NM_000507.4

p.R244_V246Fs

c.731_738delinsAGACTGFs

1 paper

NM_000507.4

p.Y241*

c.723T>A

1 paper

NM_000507.4

p.R244_V246Fs

c.731_738delinsAGACTGCATGGAGCTCFs

1 paper

NM_000507.4

p.R244_V246delins

c.731_738delinsAGACTGCATGGAGCTCAGTA

1 paper

NM_000507.4

p.Y241H

c.721T>C

2 papers

NM_000507.4

p.Y241fs

c.721_722fs

1 paper

NM_000507.4

p.M249I

c.747G>A

1 paper

NM_000507.4

p.V250delFs

c.748delC

1 paper

NM_000507.4

p.A251V

c.752C>T

1 paper

NM_000507.4

p.V250_A251del1

c.749_751delCCA

2 papers

NM_000507.4

p.D236fs

c.706_707fs