Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.R474C
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SACS

NM_014363.6:p.R474C

Associated Papers

AlphaFold predicted structure of the Hsp90-like domains of the neurodegeneration linked protein sacsin reveals key residues for ATPase activity.

Perna L et al.

Frontiers in Molecular Biosciences, 2022

Sacs R272C missense homozygous mice develop an ataxia phenotype.

Larivière R et al.

Molecular Brain, 2019

Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.

Li X et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Romano A et al.

Human Mutation, 2013

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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."