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.G221R

c.661G>C

Surrounding Variants

1 paper

NM_000408.5

p.G221R

c.661G>A

1 paper

NM_000408.5

p.G221Splc

c.661+9T>C

1 paper

NM_000408.5

p.V217A

c.650T>C

4 papers

NM_000408.5

p.P205L

c.614C>T

1 paper

NM_000408.5

p.D181H

c.541G>C

1 paper

NM_000408.5

p.K166Splc

c.497+15A>G

1 paper

NM_000408.5

p.K166Splc

c.497+5G>A

1 paper

NM_000408.5

p.I160K

c.479T>A

1 paper

NM_000408.5

p.A151S

c.451G>T

1 paper

NM_000408.5

p.L148P

c.443T>C

1 paper

NM_000408.5

p.Q133_Y134Splc

c.399+67G>A

1 paper

NM_000408.5

p.I126T

c.377T>C