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

2 papers

NM_005391.5

p.R310K

c.929G>A

Surrounding Variants

1 paper

NM_005391.5

p.R299S

c.895C>A

1 paper

NM_005391.5

p.R299C

c.895C>T

1 paper

NM_005391.5

p.L321_A322Splc

c.963+160G>T

1 paper

NM_005391.5

p.L281V

c.841T>G

1 paper

NM_005391.5

p.Y267fs

c.799_800fs

1 paper

NM_005391.5

p.K250N

c.750G>C

1 paper

NM_005391.5

p.K250N

c.750G>T

1 paper

NM_005391.5

p.A227V

c.680C>T

1 paper

NM_005391.5

p.F324L

c.970T>C

1 paper

NM_005391.5

p.F324L

c.972T>A

1 paper

NM_005391.5

p.F324L

c.972T>G

1 paper

NM_005391.5

p.R332H

c.995G>A