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

1 paper

NM_002610.5

p.R188L

c.563G>T

Surrounding Variants

1 paper

NM_002610.5

p.R188H

c.563G>A

1 paper

NM_002610.5

p.S187C

c.559A>T

1 paper

NM_002610.5

p.I191V

c.571A>G

2 papers

NM_002610.5

p.Y185*

c.555C>A

2 papers

NM_002610.5

p.Y185*

c.555C>G

1 paper

NM_002610.5

p.I191T

c.572T>C

1 paper

NM_002610.5

p.R192K

c.575G>A

1 paper

NM_002610.5

p.Q178*

c.532C>T

1 paper

NM_002610.5

p.S199C

c.596C>G

2 papers

NM_002610.5

p.N176H

c.526A>C

2 papers

NM_002610.5

p.P171P

c.513T>A

2 papers

NM_002610.5

p.Y163C

c.488A>G