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.Y157F

c.470A>T

Surrounding Variants

1 paper

NM_002612.4

p.D160Y

c.478G>T

1 paper

NM_002612.4

p.R166H

c.497G>A

1 paper

NM_002612.4

p.R170W

c.508C>T

4 papers

NM_002612.4

p.M134V

c.400A>G

1 paper

NM_002612.4

p.R124*

c.370C>T

1 paper

NM_002612.4

p.I121T

c.362T>C

1 paper

NM_002612.4

p.G186E

c.557G>A

1 paper

NM_002612.4

p.E224V

c.671A>T

1 paper

NM_002612.4

p.D109G

c.326A>G

1 paper

NM_002612.4

p.D109N

c.325G>A

1 paper

NM_002612.4

p.S106R

c.318C>G

1 paper

NM_002612.4

p.S106R

c.318C>A