Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1I
Variant:p.I1040V
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CACNA1I

NM_021096.4:p.I1040V

Associated Papers

Identification of a novel Scn3b mutation in a Chinese Brugada syndrome pedigree: implications for Nav1.5 electrophysiological properties and intracellular distribution of Nav1.5 and Navβ3.

Fan J et al.

Frontiers in Cardiovascular Medicine, 2024

38450374 (PubMed )
Supplement: Table9.xls › Sheet2

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

Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort.

Baez-Nieto D et al.

Brain : a Journal of Neurology, 2022

Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Cowan RW et al.

Clinical and Translational Gastroenterology, 2021

34797250 (PubMed )
Supplement: ct9-12-e00431-s006.xlsx › SDC6

CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population.

Wang J et al.

Pediatric Neurology, 2006

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."