Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.R1871Q
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CACNA1H

NM_021098.3:p.R1871Q

Associated Papers

Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.

Maksemous N et al.

Molecular Neurobiology, 2023

36786913 (PubMed )
Supplement: 12035_2023_3255_MOESM2_ESM.xlsx › Supplemetary_Table_2

Altered Expression of Ion Channels in White Matter Lesions of Progressive Multiple Sclerosis: What Do We Know About Their Function?

Boscia F et al.

Frontiers in Cellular Neuroscience, 2021

Genetic T-type calcium channelopathies.

Weiss N et al.

Journal of Medical Genetics, 2020

Autism throughout genetics: Perusal of the implication of ion channels.

Daghsni M et al.

Brain and Behavior, 2018

A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number.

Lyons JJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Genetic modifiers of multiple sclerosis progression, severity and onset.

Sadovnick AD et al.

Clinical Immunology (orlando, Fla.), 2017

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.

Daniil G et al.

Ebiomedicine, 2016

The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations.

Vitko I et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007

Calcium channelopathies: voltage-gated calcium channels.

Adams PJ et al.

Sub-cellular Biochemistry, 2007

CACNA1H mutations in autism spectrum disorders.

Splawski I et al.

The Journal of Biological Chemistry, 2006

Characterization of the gating brake in the I-II loop of CaV3 T-type calcium channels.

Perez-Reyes E

Channels (austin, Tex.), 0

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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."