Varaico: Literature-Extracted Genetic Variants

PDK4

78 papers

RefSeq Summary

This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits...

Pfam Domains

BCDHK_Adom3aa 34–195UCSCMitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

HATPase_caa 243–368UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

Gene Aliases

HGNC Name

pyruvate dehydrogenase kinase 4

HGNC Previous Names

pyruvate dehydrogenase kinase, isoenzyme 4; pyruvate dehydrogenase kinase, isozyme 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002612.4

p.A262V

c.785C>T

Surrounding Variants

1 paper

NM_002612.4

p.R261W

c.781C>T

1 paper

NM_002612.4

p.P275S

c.823C>T

1 paper

NM_002612.4

p.P275L

c.824C>T

1 paper

NM_002612.4

p.I276T

c.827T>C

2 papers

NM_002612.4

p.R305H

c.914G>A

1 paper

NM_002612.4

p.V318E

c.953T>A

1 paper

NM_002612.4

p.P326L

c.977C>T

1 paper

NM_002612.4

p.G333D

c.998G>A

2 papers

NM_002612.4

p.L334F

c.1002G>T

2 papers

NM_002612.4

p.L334F

c.1002G>C

1 paper

NM_002612.4

p.A341A

c.1023A>C

1 paper

NM_002612.4

p.D347A

c.1040A>C