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.G16V

c.47G>T

Surrounding Variants

2 papers

NM_002610.5

p.G14V

c.41G>T

1 paper

NM_002610.5

p.L19M

c.55C>A

1 paper

NM_002610.5

p.L19Q

c.56T>A

1 paper

NM_002610.5

p.A13P

c.37G>C

1 paper

NM_002610.5

p.A21G

c.62C>G

1 paper

NM_002610.5

p.A22G

c.65C>G

3 papers

NM_002610.5

p.R8C

c.22C>T

1 paper

NM_002610.5

p.S25N

c.74G>A

1 paper

NM_002610.5

p.L6Q

c.17T>A

1 paper

NM_002610.5

p.L6M

c.16C>A

1 paper

NM_002610.5

p.R5Q

c.14G>A

2 papers

NM_002610.5

p.R5L

c.14G>T