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

1 paper

NM_003837.4

p.Q229*

c.685C>T

Surrounding Variants

1 paper

NM_003837.4

p.E226K

c.676G>A

1 paper

NM_003837.4

p.A222A

c.666G>A

1 paper

NM_003837.4

p.N213K

c.639T>G

1 paper

NM_003837.4

p.N213K

c.639T>A

6 papers

NM_003837.4

p.S211N

c.632G>A

1 paper

NM_003837.4

p.D200H

c.598G>C

1 paper

NM_003837.4

p.F194S

c.581T>C

1 paper

NM_003837.4

p.G247S

c.739G>A

1 paper

NM_003837.4

p.G260R

c.778G>C

1 paper

NM_003837.4

p.G260R

c.778G>A

1 paper

NM_003837.4

p.G260V

c.779G>T

1 paper

NM_003837.4

p.K275_L276Splc

c.825+1G>A