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

1–12 of 149 variants

4 papers

NM_002610.5

p.Q61R

c.182A>G

4 papers

NM_002610.5

p.K127N

c.381A>C

4 papers

NM_002610.5

p.K127N

c.381A>T

3 papers

NM_002610.5

p.R8C

c.22C>T

3 papers

NM_002610.5

p.G380D

c.1139G>A

2 papers

NM_002610.5

p.A4V

c.11C>T

2 papers

NM_002610.5

p.A4A

c.12G>A

2 papers

NM_002610.5

p.R5L

c.14G>T

2 papers

NM_002610.5

p.G14V

c.41G>T

2 papers

NM_002610.5

p.F52L

c.154T>C

2 papers

NM_002610.5

p.F52L

c.156C>A

2 papers

NM_002610.5

p.F52L

c.156C>G