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.T140T

c.420C>A

Surrounding Variants

1 paper

NM_002611.5

p.V146V

c.438C>T

2 papers

NM_002611.5

p.R120Q

c.359G>A

1 paper

NM_002611.5

p.R107C

c.319C>T

1 paper

NM_002611.5

p.Y88C

c.263A>G

1 paper

NM_002611.5

p.P182S

c.544C>T

1 paper

NM_002611.5

p.A218T

c.652G>A

1 paper

NM_002611.5

p.F250S

c.749T>C

1 paper

NM_002611.5

p.P296R

c.887C>G

1 paper

NM_002611.5

p.E301E

c.903G>A

1 paper

NM_002611.5

p.G319A

c.956G>C

1 paper

NM_002611.5

p.D355N

c.1063G>A

1 paper

NM_002611.5

p.T365T

c.1095G>A