Varaico: Literature-Extracted Genetic Variants

GPD2

71 papers

RefSeq Summary

The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with G...

Pfam Domains

DAOaa 71–441UCSCFAD dependent oxidoreductase

DAO_Caa 462–588UCSCC-terminal domain of alpha-glycerophosphate oxidase

Gene Aliases

HGNC Name

glycerol-3-phosphate dehydrogenase 2

HGNC Previous Name

glycerol-3-phosphate dehydrogenase 2 (mitochondrial)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000408.5

p.L234V

c.700C>G

Surrounding Variants

7 papers

NM_000408.5

p.R264H

c.791G>A

1 paper

NM_000408.5

p.G276R

c.826G>A

1 paper

NM_000408.5

p.G276R

c.826G>C

1 paper

NM_000408.5

p.I287T

c.860T>C

1 paper

NM_000408.5

p.T290M

c.869C>T

1 paper

NM_000408.5

p.T294R

c.881C>G

1 paper

NM_000408.5

p.S312G

c.934A>G

1 paper

NM_000408.5

p.V318E

c.953T>A

1 paper

NM_000408.5

p.R339Q

c.1016G>A

1 paper

NM_000408.5

p.T350M

c.1049C>T

1 paper

NM_000408.5

p.P365A

c.1093C>G

1 paper

NM_000408.5

p.I366V

c.1096A>G