Varaico: Literature-Extracted Genetic Variants

FBP2

52 papers

RefSeq Summary

This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008].

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 2

HGNC Previous Name

fructose-1,6-bisphosphatase 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003837.4

p.T297P

c.889A>C

Surrounding Variants

1 paper

NM_003837.4

p.G294V

c.881G>T

1 paper

NM_003837.4

p.I289insFs

c.865dupA

1 paper

NM_003837.4

p.P284R

c.851C>G

1 paper

NM_003837.4

p.P284S

c.850C>T

1 paper

NM_003837.4

p.E281K

c.841G>A

1 paper

NM_003837.4

p.R277L

c.830G>T

2 papers

NM_003837.4

p.G320_S321insFs

c.960_961insG

1 paper

NM_003837.4

p.S321fs

c.961_962fs

1 paper

NM_003837.4

p.V325A

c.974T>C

1 paper

NM_003837.4

p.T330T

c.990C>A

1 paper

NM_003837.4

p.K275_L276Splc

c.825+1G>A

1 paper

NM_003837.4

p.G260V

c.779G>T