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

2 papers

NM_002612.4

p.A66T

c.196G>A

Surrounding Variants

1 paper

NM_002612.4

p.K70E

c.208A>G

1 paper

NM_002612.4

p.E60K

c.178G>A

1 paper

NM_002612.4

p.P76L

c.227C>T

1 paper

NM_002612.4

p.A55V

c.164C>T

1 paper

NM_002612.4

p.S83P

c.247T>C

1 paper

NM_002612.4

p.G44Splc

c.131-1G>C

2 papers

NM_002612.4

p.K38E

c.112A>G

1 paper

NM_002612.4

p.S36S

c.108C>T

2 papers

NM_002612.4

p.R22R

c.66A>T

1 paper

NM_002612.4

p.V20G

c.59T>G

1 paper

NM_002612.4

p.L19M

c.55C>A

1 paper

NM_002612.4

p.A17V

c.50C>T