Varaico: Literature-Extracted Genetic Variants

PDPR

109 papers

RefSeq Summary

Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reacti...

Pfam Domains

DAOaa 44–402UCSCFAD dependent oxidoreductase

FAO_Maa 405–460UCSCFAD dependent oxidoreductase central domain

GCV_Taa 462–745UCSCGCVT N-terminal domain

GCV_T_Caa 765–858UCSCGlycine cleavage T-protein C-terminal barrel domain

Gene Aliases

HGNC Name

pyruvate dehydrogenase phosphatase regulatory subunit

HGNC Alias Symbol

PDP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017990.5

p.A31T

c.91G>A

Surrounding Variants

17 papers

NM_017990.5

p.T29A

c.85A>G

1 paper

NM_017990.5

p.Q42E

c.124C>G

1 paper

NM_017990.5

p.W19L

c.56G>T

1 paper

NM_017990.5

p.Q44H

c.132G>C

3 papers

NM_017990.5

p.I47V

c.139A>G

1 paper

NM_017990.5

p.G11E

c.32G>A

1 paper

NM_017990.5

p.G51*

c.151G>T

13 papers

NM_017990.5

p.V10D

c.29T>A

1 paper

NM_017990.5

p.I9M

c.27T>G

1 paper

NM_017990.5

p.S56F

c.167C>T

1 paper

NM_017990.5

p.R5W

c.13C>T

1 paper

NM_017990.5

p.V57V

c.171G>C