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.G333D

c.998G>A

Surrounding Variants

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

1 paper

NM_002612.4

p.S352F

c.1055C>T

1 paper

NM_002612.4

p.Y356F

c.1067A>T

1 paper

NM_002612.4

p.G357E

c.1070G>A

1 paper

NM_002612.4

p.D359G

c.1076A>G

1 paper

NM_002612.4

p.A360S

c.1078G>T

1 paper

NM_002612.4

p.P326L

c.977C>T

1 paper

NM_002612.4

p.V318E

c.953T>A

2 papers

NM_002612.4

p.R305H

c.914G>A