Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.Q112H
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CHCHD2

NM_016139.4:p.Q112H

Associated Papers

Transcriptional activation by MNRR1 is effected by recruiting p300 and can be induced by minimal peptides.

Purandare N et al.

Mitochondrion, 2026

CHCHD10 is involved in the development of Parkinson's disease caused by CHCHD2 loss-of-function mutation p.T61I.

Mao C et al.

Neurobiology of Aging, 2019

Abl2 kinase phosphorylates Bi-organellar regulator MNRR1 in mitochondria, stimulating respiration.

Aras S et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2017

MNRR1, a Biorganellar Regulator of Mitochondria.

Grossman LI et al.

Oxidative Medicine and Cellular Longevity, 2017

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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."