Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.V470M
Back to variants list

CACNA1S

NM_000069.3:p.V470M

Associated Papers

Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.

Shu H et al.

Journal of Molecular Neuroscience : Mn, 2026

Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.

Zhao X et al.

Orphanet Journal of Rare Diseases, 2024

Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.

Vilela J et al.

Biomedicines, 2023

38001974 (PubMed )
Supplement: biomedicines-11-02971-s001.zip › Supplementary_Table_S5.xlsx › S5

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc24.xlsx › Sheet1
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."