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

1–12 of 59 variants

4 papers

NM_002612.4

p.M134V

c.400A>G

2 papers

NM_002612.4

p.R22R

c.66A>T

2 papers

NM_002612.4

p.K38E

c.112A>G

2 papers

NM_002612.4

p.A66T

c.196G>A

2 papers

NM_002612.4

p.R305H

c.914G>A

2 papers

NM_002612.4

p.L334F

c.1002G>T

2 papers

NM_002612.4

p.L334F

c.1002G>C

2 papers

NM_002612.4

p.D394A

c.1181A>C

1 paper

NM_002612.4

p.R5H

c.14G>A

1 paper

NM_002612.4

p.R9H

c.26G>A

1 paper

NM_002612.4

p.S10fs

c.28_29fs

1 paper

NM_002612.4

p.G12S

c.34G>A