Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D4
Variant:p.L817_R818insFs
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CACNA2D4

NM_172364.5:p.L817_R818insFs

Associated Papers

Depleted Calcium Stores and Increased Calcium Entry in Rod Photoreceptors of the Cacna2d4 Mouse Model of Cone-Rod Dystrophy RCD4.

Vellani V et al.

International Journal of Molecular Sciences, 2022

Sensing through Non-Sensing Ocular Ion Channels.

Kabra M et al.

International Journal of Molecular Sciences, 2020

α2δ-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses.

Kerov V et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018

A New Splicing Isoform of Cacna2d4 Mimicking the Effects of c.2451insC Mutation in the Retina: Novel Molecular and Electrophysiological Insights.

Bacchi N et al.

Investigative Ophthalmology & Visual Science, 2015

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

Zeitz C et al.

Progress in Retinal and Eye Research, 2015

TMEM16A is associated with voltage-gated calcium channels in mouse retina and its function is disrupted upon mutation of the auxiliary α2δ4 subunit.

Caputo A et al.

Frontiers in Cellular Neuroscience, 2015

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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."