Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R433C
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SCN5A

NM_000335.5:p.R433C

Associated Papers

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased NaV1.5 current and mechanosensitivity.

Strege PR et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2018

Ion channelopathies in functional GI disorders.

Beyder A et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2016

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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."