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.R16delFs

c.48delG

Surrounding Variants

1 paper

NM_003837.4

p.R16H

c.47G>A

1 paper

NM_003837.4

p.E20K

c.58G>A

2 papers

NM_003837.4

p.K21R

c.62A>G

1 paper

NM_003837.4

p.R23C

c.67C>T

1 paper

NM_003837.4

p.R23H

c.68G>A

1 paper

NM_003837.4

p.E8K

c.22G>A

1 paper

NM_003837.4

p.L54P

c.161T>C

1 paper

NM_003837.4

p.I60I

c.180C>T

1 paper

NM_003837.4

p.L77L

c.229C>T

1 paper

NM_003837.4

p.V86L

c.256G>C

1 paper

NM_003837.4

p.V86A

c.257T>C

1 paper

NM_003837.4

p.S91G

c.271A>G