Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1C
Variant:p.N550Y
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CACNA1C

NM_000719.7:p.N550Y

Associated Papers

Functional identification of hot-spot mutations in cardiac calcium channel genes associated with the J wave syndromes.

Zeng B et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.

Blancard M et al.

Scientific Reports, 2018

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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."