Varaico: Literature-Extracted Genetic Variants

PDK3

72 papers

RefSeq Summary

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link ...

Pfam Domains

BCDHK_Adom3aa 26–188UCSCMitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

HATPase_caa 236–362UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

Gene Aliases

HGNC Name

pyruvate dehydrogenase kinase 3

HGNC Previous Names

pyruvate dehydrogenase kinase, isoenzyme 3; pyruvate dehydrogenase kinase, isozyme 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005391.5

p.Y84H

c.250T>C

Surrounding Variants

1 paper

NM_005391.5

p.E90G

c.269A>G

1 paper

NM_005391.5

p.E93*

c.277G>T

1 paper

NM_005391.5

p.S98N

c.293G>A

1 paper

NM_005391.5

p.W83Splc

c.248+3A>G

1 paper

NM_005391.5

p.N73S

c.218A>G

1 paper

NM_005391.5

p.Y46C

c.137A>G

1 paper

NM_005391.5

p.L109P

c.326T>C

1 paper

NM_005391.5

p.K114T

c.341A>C

1 paper

NM_005391.5

p.K114R

c.341A>G

1 paper

NM_005391.5

p.V115I

c.343G>A

1 paper

NM_005391.5

p.N120H

c.358A>C

1 paper

NM_005391.5

p.D121N

c.361G>A