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.F324L

c.972T>G

Surrounding Variants

1 paper

NM_005391.5

p.F324L

c.972T>A

1 paper

NM_005391.5

p.F324L

c.970T>C

1 paper

NM_005391.5

p.R332H

c.995G>A

1 paper

NM_005391.5

p.Y334S

c.1001A>C

1 paper

NM_005391.5

p.S362*

c.1085C>A

1 paper

NM_005391.5

p.S362*

c.1085C>G

1 paper

NM_005391.5

p.R378H

c.1133G>A

1 paper

NM_005391.5

p.S394R

c.1180A>C

1 paper

NM_005391.5

p.S394T

c.1181G>C

1 paper

NM_005391.5

p.S394R

c.1182T>A

1 paper

NM_005391.5

p.S394R

c.1182T>G

1 paper

NM_005391.5

p.L321_A322Splc

c.963+160G>T