Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1C
Variant:p.R511Q
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CACNA1C

NM_000719.7:p.R511Q

Associated Papers

Structural bases of inhibitory mechanism of CaV1.2 channel inhibitors.

Wei Y et al.

Nature Communications, 2024

38555290 (PubMed )
Supplement: 41467_2024_47116_MOESM4_ESM.pdf

The Role of Next-Generation Sequencing in the Management of Patients with Suspected Non-Ischemic Cardiomyopathy after Syncope or Termination of Sudden Arrhythmic Death.

Vokač D et al.

Genes, 2024

Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome.

Nakajima T et al.

Plos One, 2022

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
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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."