Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.E819K
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CACNA1H

NM_021098.3:p.E819K

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS5

Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia.

Mustafá ER et al.

Molecular Brain, 2022

Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.

Viggiano M et al.

Frontiers in Psychiatry, 2022

35350424 (PubMed )
Supplement: Data-Sheet_1.pdf

Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia.

Dong W et al.

Iscience, 2020

33083721 (PubMed )
Supplement: mmc6.xlsx › ST5B
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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."