Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1D
Variant:p.G403_V404insG
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CACNA1D

NM_001128840.3:p.G403_V404insG

Associated Papers

CACNA1D is a circadian gene and causes familial advanced sleep phase.

Webb JM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Ca2+ Channels in Anterior Pituitary Somatotrophs: A Therapeutic Perspective.

Nussinovitch I

Endocrinology, 2018

The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.

Milanesi R et al.

Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2015

The role of L-type voltage-gated calcium channels Cav1.2 and Cav1.3 in normal and pathological brain function.

Berger SM et al.

Cell and Tissue Research, 2014

What can naturally occurring mutations tell us about Ca(v)1.x channel function?

Stockner T et al.

Biochimica Et Biophysica Acta, 2013

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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."