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

2 papers

NM_002610.5

p.Y163C

c.488A>G

Surrounding Variants

1 paper

NM_002610.5

p.E162A

c.485A>C

1 paper

NM_002610.5

p.V160M

c.478G>A

1 paper

NM_002610.5

p.Q158H

c.474G>C

1 paper

NM_002610.5

p.Q158H

c.474G>T

1 paper

NM_002610.5

p.A157T

c.469G>A

1 paper

NM_002610.5

p.M156V

c.466A>G

2 papers

NM_002610.5

p.P171P

c.513T>A

2 papers

NM_002610.5

p.N176H

c.526A>C

1 paper

NM_002610.5

p.N150K

c.450T>A

1 paper

NM_002610.5

p.Q178*

c.532C>T

1 paper

NM_002610.5

p.R144fs

c.430_431fs

2 papers

NM_002610.5

p.Y185*

c.555C>A