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.G641fs

c.1921_1922fs

Surrounding Variants

1 paper

NM_000408.5

p.Q639H

c.1917G>C

1 paper

NM_000408.5

p.Q639H

c.1917G>T

1 paper

NM_000408.5

p.F635S

c.1904T>C

1 paper

NM_000408.5

p.D647N

c.1939G>A

1 paper

NM_000408.5

p.V648A

c.1943T>C

2 papers

NM_000408.5

p.D624N

c.1870G>A

1 paper

NM_000408.5

p.I618I

c.1854T>C

1 paper

NM_000408.5

p.S609T

c.1825T>A

1 paper

NM_000408.5

p.K606R

c.1817A>G

1 paper

NM_000408.5

p.T594P

c.1780A>C

1 paper

NM_000408.5

p.L687L

c.2061G>A

1 paper

NM_000408.5

p.D721N

c.2161G>A