Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA4
Variant:p.R336C
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CHRNA4

NM_000744.7:p.R336C

Associated Papers

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

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

Jalaiei A et al.

Journal of Neurochemistry, 2025

A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences.

Thorgeirsson TE et al.

Molecular Psychiatry, 2016

Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy.

Weltzin MM et al.

Neuropharmacology, 2016

Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence.

Hancock DB et al.

Translational Psychiatry, 2015

Rare human nicotinic acetylcholine receptor α4 subunit (CHRNA4) variants affect expression and function of high-affinity nicotinic acetylcholine receptors.

McClure-Begley TD et al.

The Journal of Pharmacology and Experimental Therapeutics, 2014

Rare nonsynonymous variants in alpha-4 nicotinic acetylcholine receptor gene protect against nicotine dependence.

Xie P et al.

Biological Psychiatry, 2011

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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."