Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.P14S
Back to variants list

CHCHD2

NM_016139.4:p.P14S

Associated Papers

Effects of pathological mutations on the CHCHD2 monomer structure: A study by AlphaFold3 linked to the generation of conformational ensembles.

Özmen ZA et al.

Computers in Biology and Medicine, 2025

Role of the mitochondrial regulatory factor CHCHD2 in neurodegenerative diseases.

Guo X et al.

Frontiers in Neuroscience, 2025

CHCHD2 and CHCHD10: Future therapeutic targets in cognitive disorder and motor neuron disorder.

Jiang T et al.

Frontiers in Neuroscience, 2022

Neurodegeneration-associated mitochondrial proteins, CHCHD2 and CHCHD10-what distinguishes the two?

Ikeda A et al.

Frontiers in Cell and Developmental Biology, 2022

Mitochondrial CHCHD2: Disease-Associated Mutations, Physiological Functions, and Current Animal Models.

Kee TR et al.

Frontiers in Aging Neuroscience, 2021

Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases.

Zhou ZD et al.

Molecular Neurobiology, 2017

Mutational scanning of the CHCHD2 gene in Han Chinese patients with Parkinson's disease and meta-analysis of the literature.

Yang X et al.

Parkinsonism & Related Disorders, 2016

Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease.

Zhang M et al.

Neurobiology of Aging, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."