Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA4
Variant:p.R345C
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CHRNA4

NM_000744.7:p.R345C

Associated Papers

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

Wong K et al.

Nature Communications, 2025

40389436 (PubMed )
Supplement: 41467_2025_59871_MOESM4_ESM.xlsx › Supp._Data_2c_-_Other

Clinical, molecular, physiologic, and therapeutic feature of patients with CHRNA4 and CHRNB2 deficiency: A systematic review.

Jalaiei A et al.

Journal of Neurochemistry, 2025

Genetic characteristics of non-familial epilepsy.

Kang KW et al.

Peerj, 2019

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.

Sabatelli M et al.

Human Molecular Genetics, 2009

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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."