Varaico: Literature-Extracted Genetic Variants

PDK2

48 papers

RefSeq Summary

This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogen...

Pfam Domains

BCDHK_Adom3aa 30–192UCSCMitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

HATPase_caa 240–364UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

Gene Aliases

HGNC Name

pyruvate dehydrogenase kinase 2

HGNC Alias Symbol

PDHK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002611.5

p.R2H

c.5G>A

Surrounding Variants

1 paper

NM_002611.5

p.R2C

c.4C>T

1 paper

NM_002611.5

p.A14A

c.42A>G

1 paper

NM_002611.5

p.S32Y

c.95C>A

1 paper

NM_002611.5

p.D73V

c.218A>T

1 paper

NM_002611.5

p.S80S

c.240C>T

1 paper

NM_002611.5

p.Y88C

c.263A>G

1 paper

NM_002611.5

p.R107C

c.319C>T