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

1–12 of 66 variants

7 papers

NM_000408.5

p.R264H

c.791G>A

4 papers

NM_000408.5

p.P205L

c.614C>T

3 papers

NM_000408.5

p.E426K

c.1276G>A

3 papers

NM_000408.5

p.R554C

c.1660C>T

2 papers

NM_000408.5

p.G78E

c.233G>A

2 papers

NM_000408.5

p.G117V

c.350G>T

2 papers

NM_000408.5

p.D624N

c.1870G>A

1 paper

NM_000408.5

p.D44N

c.130G>A

1 paper

NM_000408.5

p.E58insFs

c.174dupA

1 paper

NM_000408.5

p.D101G

c.302A>G

1 paper

NM_000408.5

p.I126T

c.377T>C

1 paper

NM_000408.5

p.Q133_Y134Splc

c.399+67G>A