Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.C256F
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CACNA1A

NM_001127222.2:p.C256F

Associated Papers

Case Report: Decoding genetic risks of vascular parkinsonism: a case series.

Shalash A et al.

Frontiers in Genetics, 2025

40786864 (PubMed )
Supplement: Table1.xlsx › S.table1

Genotype-phenotype relations for episodic ataxia genes: MDSGene systematic review.

Olszewska DA et al.

European Journal of Neurology, 2023

CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.

Indelicato E et al.

Handbook of Experimental Pharmacology, 2023

Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia.

Nikonishyna YV et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

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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."