Varaico: Literature-Extracted Genetic Variants

PDK1

337 papers

RefSeq Summary

Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostas...

Pfam Domains

BCDHK_Adom3aa 56–220UCSCMitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

HATPase_caa 268–393UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

Gene Aliases

HGNC Name

pyruvate dehydrogenase kinase 1

HGNC Previous Names

pyruvate dehydrogenase kinase, isoenzyme 1; pyruvate dehydrogenase kinase, isozyme 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002610.5

p.G380D

c.1139G>A

Surrounding Variants

1 paper

NM_002610.5

p.G380C

c.1138G>T

1 paper

NM_002610.5

p.S377A

c.1129T>G

1 paper

NM_002610.5

p.Y376F

c.1127A>T

1 paper

NM_002610.5

p.D372E

c.1116C>G

1 paper

NM_002610.5

p.G371E

c.1112G>A

1 paper

NM_002610.5

p.R363H

c.1088G>A

1 paper

NM_002610.5

p.I361insFs

c.1082dupT

1 paper

NM_002610.5

p.L359M

c.1075T>A

1 paper

NM_002610.5

p.L359V

c.1075T>G

1 paper

NM_002610.5

p.G358*

c.1072G>T

1 paper

NM_002610.5

p.A353S

c.1057G>T

1 paper

NM_002610.5

p.L352_A353Splc

c.1057-1G>A