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.G164S

c.490G>A

Surrounding Variants

1 paper

NM_003837.4

p.G164D

c.491G>A

4 papers

NM_003837.4

p.A163T

c.487G>A

1 paper

NM_003837.4

p.Y168Y

c.504C>T

1 paper

NM_003837.4

p.R158C

c.472C>T

1 paper

NM_003837.4

p.S170S

c.510T>C

1 paper

NM_003837.4

p.A171P

c.511G>C

1 paper

NM_003837.4

p.V182V

c.546G>A

1 paper

NM_003837.4

p.F194S

c.581T>C

1 paper

NM_003837.4

p.D200H

c.598G>C

6 papers

NM_003837.4

p.S211N

c.632G>A

1 paper

NM_003837.4

p.N213K

c.639T>G

1 paper

NM_003837.4

p.N213K

c.639T>A