Varaico: Literature-Extracted Genetic Variants

Gene:PDK3
Variant:p.Q10L

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.Q10L
c.29A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."