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.S36S

c.108C>T

Surrounding Variants

2 papers

NM_002612.4

p.K38E

c.112A>G

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

1 paper

NM_002612.4

p.N15fs

c.43_44fs

1 paper

NM_002612.4

p.L14insFs

c.42dupC

1 paper

NM_002612.4

p.G12D

c.35G>A

1 paper

NM_002612.4

p.G12S

c.34G>A

1 paper

NM_002612.4

p.S10fs

c.28_29fs

1 paper

NM_002612.4

p.R9H

c.26G>A

1 paper

NM_002612.4

p.R5H

c.14G>A