Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1C
Variant:p.R860P
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CACNA1C

NM_000719.7:p.R860P

Associated Papers

L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Tarnovskaya SI et al.

Membranes, 2021

34436362 (PubMed )
Supplement: membranes-11-00599-s001.zip › membranes-1307172-supplementary.xlsx › Table_S1

Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site.

Mellor GJ et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2019

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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."