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

11 papers

NM_000507.4

p.A177D

c.530C>A

Surrounding Variants

1 paper

NM_000507.4

p.V182fs

c.544_545fs

1 paper

NM_000507.4

p.V182delFs

c.544delC

1 paper

NM_000507.4

p.T172I

c.515C>T

1 paper

NM_000507.4

p.S170N

c.509G>A

1 paper

NM_000507.4

p.F185S

c.554T>C

1 paper

NM_000507.4

p.L167P

c.500T>C

1 paper

NM_000507.4

p.A166T

c.496G>A

1 paper

NM_000507.4

p.Y165*

c.495C>G

1 paper

NM_000507.4

p.Y165*

c.495C>A

1 paper

NM_000507.4

p.P189_A190Splc

c.567+1G>C

1 paper

NM_001127628.2

p.P189_A190Splc

c.567+1G>A

1 paper

NM_000507.4

p.P189_A190Splc

c.567+2T>A