Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.R2060H
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CACNA1H

NM_021098.3:p.R2060H

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_MOESM1_ESM.xlsx › Supplementary_Table_1

Treatment-associated TP53 DNA-binding domain missense mutations in the pathogenesis of secondary gliosarcoma.

Pain M et al.

Oncotarget, 2018

29416795 (PubMed )
Supplement: oncotarget-09-2603-s001.pdf

Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.

Becker F et al.

Epilepsia Open, 2017

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

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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."