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.A569V

c.1706C>T

Surrounding Variants

1 paper

NM_000408.5

p.R554H

c.1661G>A

3 papers

NM_000408.5

p.R554C

c.1660C>T

1 paper

NM_000408.5

p.V549L

c.1645G>C

1 paper

NM_000408.5

p.V549L

c.1645G>T

1 paper

NM_000408.5

p.Q589_E590Splc

c.1767+2T>G

1 paper

NM_000408.5

p.Y539C

c.1616A>G

1 paper

NM_000408.5

p.Q589_E590Splc

c.1767+33C>A

1 paper

NM_000408.5

p.R525H

c.1574G>A

1 paper

NM_000408.5

p.E492K

c.1474G>A

1 paper

NM_000408.5

p.G466G

c.1398G>A

1 paper

NM_000408.5

p.K453Q

c.1357A>C

1 paper

NM_000408.5

p.R441L

c.1322G>T