Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB4
Variant:p.R349C
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CHRNB4

NM_000750.5:p.R349C

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

Rare Missense Variants of the Human β4 Subunit Alter Nicotinic α3β4 Receptor Plasma Membrane Localisation.

Colombo SF et al.

Molecules (basel, Switzerland), 2023

The contribution of rare and common variants in 30 genes to risk nicotine dependence.

Yang J et al.

Molecular Psychiatry, 2015

Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence.

Haller G et al.

Human Molecular Genetics, 2014

Habenular expression of rare missense variants of the β4 nicotinic receptor subunit alters nicotine consumption.

Slimak MA et al.

Frontiers in Human Neuroscience, 2014

Functional characterization improves associations between rare non-synonymous variants in CHRNB4 and smoking behavior.

Haller G et al.

Plos One, 2014

Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence.

Haller G et al.

Human Molecular Genetics, 2012

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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."