Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.A339G
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COQ8A

NM_020247.5:p.A339G

Associated Papers

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.

Traschütz A et al.

Annals of Neurology, 2020

Intragenic suppressor mutations of the COQ8 protein kinase homolog restore coenzyme Q biosynthesis and function in Saccharomyces cerevisiae.

Awad AM et al.

Plos One, 2020

Conserved Lipid and Small-Molecule Modulation of COQ8 Reveals Regulation of the Ancient Kinase-like UbiB Family.

Reidenbach AG et al.

Cell Chemical Biology, 2018

Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.

Stefely JA et al.

Molecular Cell, 2015

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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."