Varaico: Literature-Extracted Genetic Variants

Gene:COA5
Variant:p.A53P
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COA5

NM_001008215.3:p.A53P

Associated Papers

COA5 has an essential role in the early stage of mitochondrial complex IV assembly.

Tang JX et al.

Life Science Alliance, 2025

Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease.

Modjtahedi N et al.

Trends in Biochemical Sciences, 2016

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

Huigsloot M et al.

American Journal of Human Genetics, 2011

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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."