Varaico: Literature-Extracted Genetic Variants

Gene:AFG3L2
Variant:p.E408Q
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AFG3L2

NM_006796.3:p.E408Q

Associated Papers

Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease.

Puchades C et al.

Molecular Cell, 2019

Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly.

Hornig-Do HT et al.

The Embo Journal, 2012

Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1.

Ehses S et al.

The Journal of Cell Biology, 2009

An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases.

Augustin S et al.

Molecular Cell, 2009

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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."