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.S128R

c.382A>C

Surrounding Variants

4 papers

NM_002610.5

p.K127N

c.381A>C

4 papers

NM_002610.5

p.K127N

c.381A>T

1 paper

NM_002610.5

p.S128R

c.384T>A

1 paper

NM_002610.5

p.S128R

c.384T>G

1 paper

NM_002610.5

p.L122H

c.365T>A

1 paper

NM_002610.5

p.Q116*

c.346C>T

1 paper

NM_002610.5

p.F138_D140del0

c.414_419del6

1 paper

NM_002610.5

p.R144fs

c.430_431fs

1 paper

NM_002610.5

p.N150K

c.450T>A

1 paper

NM_002610.5

p.M156V

c.466A>G

1 paper

NM_002610.5

p.A157T

c.469G>A

1 paper

NM_002610.5

p.Q158H

c.474G>C