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.Q61H

c.183G>C

Surrounding Variants

2 papers

NM_002610.5

p.Q61H

c.183G>T

4 papers

NM_002610.5

p.Q61R

c.182A>G

1 paper

NM_002610.5

p.Q61K

c.181C>A

1 paper

NM_002610.5

p.G66Splc

c.196+1G>T

2 papers

NM_002610.5

p.F52L

c.156C>A

2 papers

NM_002610.5

p.F52L

c.156C>G

2 papers

NM_002610.5

p.F52L

c.154T>C

1 paper

NM_002610.5

p.Y49*

c.147C>A

1 paper

NM_002610.5

p.Y49*

c.147C>G

1 paper

NM_002610.5

p.Y49F

c.146A>T

1 paper

NM_002610.5

p.E39K

c.115G>A

1 paper

NM_002610.5

p.A37A

c.111G>A