Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA5
Variant:p.D398N
Back to variants list

CHRNA5

NM_000745.4:p.D398N

Associated Papers

Rare coding variants in CHRNB3 associate with reduced daily cigarette smoking across ancestries.

Rajagopal VM et al.

Nature Communications, 2026

CHRNA5 D398N mutation in addiction: Pathogenic insights and therapeutic discovery.

Imran M et al.

Pakistan Journal of Pharmaceutical Sciences, 2026

The influence of CHRNA5 and D398N missense variation on social and emotional behaviors in rodents and humans.

de Chaumont F et al.

Translational Psychiatry, 2025

Maternal Smoking During Pregnancy Interacts With Genetic Factors to Increase Risk for Low Birth Weight but Not Harmful Offspring Smoking Behaviors in Europeans.

Romero Villela PN et al.

Nicotine & Tobacco Research : Official Journal of the Society for Research on Nicotine and Tobacco, 2025

Exploring the Associations Between CHRNA5 and IREB2 Gene Polymorphisms and COPD in the Kazakhstan Population.

Akparova A et al.

Biomedicines, 2025

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

Dissecting the Genetic Architecture of Intracranial Aneurysms.

Adkar SS et al.

Circulation. Genomic and Precision Medicine, 2025

40255156 (PubMed )
Supplement: circcvg-2024-004626-t-s02.xlsx › Table_9

Integrative Genome-wide Association Meta-analysis of Aortic Aneurysm and Dissection Identifies Five Novel Genes.

Du Y et al.

Genomics, Proteomics & Bioinformatics, 2025

40300110 (PubMed )
Supplement: qzaf039_supplementary_data.zip › Table_S1.xlsx › Sheet1

Efficient and accurate framework for genome-wide gene-environment interaction analysis in large-scale biobanks.

Ma Y et al.

Nature Communications, 2025

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Linking altered neuronal and synaptic properties to nicotinic receptor Alpha5 subunit gene dysfunction: a translational investigation in rat mPFC and human cortical layer 6.

Yang D et al.

Translational Psychiatry, 2025

Investigation of the α9-nicotinic receptor single nucleotide polymorphisms induced oncogenic properties and molecular mechanisms in breast cancer.

Liao YC et al.

Human Molecular Genetics, 2024

Distinct Chrna5 mutations link excessive alcohol use to types I/II vulnerability profiles and IPN GABAergic neurons.

Tochon L et al.

Translational Psychiatry, 2024

Smoking-Related Increases in Alcohol Outcomes and Preliminary Evidence for the Protective Effect of a Functional Nicotine Receptor Gene (CHRNA5) Variant on Alcohol Consumption in Individuals Without Alcohol Use Disorder.

Venkatesh SK et al.

The International Journal of Neuropsychopharmacology, 2024

Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes.

Toikumo S et al.

Nature Human Behaviour, 2024

Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in European ancestry individuals.

Romero Villela PN et al.

Drug and Alcohol Dependence, 2024

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

A cross-trait study of lung cancer and its related respiratory diseases based on large-scale exome sequencing population.

Jiang Y et al.

Translational Lung Cancer Research, 2024

Single nucleotide polymorphisms rs148582811 regulates its host gene ARVCF expression to affect nicotine-associated hippocampus-dependent memory.

Yang Z et al.

Iscience, 2023

Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target.

Roychowdhury T et al.

Nature Genetics, 2023

37845353 (PubMed )
Supplement: 41588_2023_1510_MOESM4_ESM.xls › S2

Identification of Pathogenic Missense Mutations in the CHRNA5 Gene: A Computational Approach.

Kumaraguru M et al.

Cureus, 2023

Multi-ancestry meta-analysis of tobacco use disorder prioritizes novel candidate risk genes and reveals associations with numerous health outcomes.

Toikumo S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

CHRNA5 gene variation affects the response of VTA dopaminergic neurons during chronic nicotine exposure and withdrawal.

Yang K et al.

Neuropharmacology, 2023

The rs16969968 Tobacco Smoking-Related Single-Nucleotide Variant Is Associated with Clinical Markers in Patients with Severe COVID-19.

Valencia-Pérez Rea D et al.

International Journal of Molecular Sciences, 2023

Genetic Contribution of the Adrenergic, Cholinergic, and Serotonergic Systems to Leiomyoma Development and Treatment.

Inácio  et al.

International Journal of Molecular and Cellular Medicine, 2023

A common SNP in Chrna5 enhances morphine reward in female mice.

Brynildsen JK et al.

Neuropharmacology, 2022

The Nicotinic Receptor Polymorphism rs16969968 Is Associated with Airway Remodeling and Inflammatory Dysregulation in COPD Patients.

Saber Cherif L et al.

Cells, 2022

Mutation of the α5 nicotinic acetylcholine receptor subunit increases ethanol and nicotine consumption in adolescence and impacts adult drug consumption.

Quijano Cardé NA et al.

Neuropharmacology, 2022

Association of Polymorphism CHRNA5 and CHRNA3 Gene in People Addicted to Nicotine.

Chmielowiec K et al.

International Journal of Environmental Research and Public Health, 2022

Gene polymorphisms and risk of head and neck squamous cell carcinoma: a systematic review.

Rajabi-Moghaddam M et al.

Reports of Practical Oncology and Radiotherapy : Journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology, 2022

Deciphering pathogenicity of variants of uncertain significance with CRISPR-edited iPSCs.

Guo H et al.

Trends in Genetics : Tig, 2021

An innate contribution of human nicotinic receptor polymorphisms to COPD-like lesions.

Routhier J et al.

Nature Communications, 2021

The Intergenerational Transmission of Developmental Nicotine Exposure-Induced Neurodevelopmental Disorder-Like Phenotypes is Modulated by the Chrna5 D397N Polymorphism in Adolescent Mice.

Buck JM et al.

Behavior Genetics, 2021

Genetic and Depressive Traits Moderate the Reward-Enhancing Effects of Acute Nicotine in Young Light Smokers.

Whitton AE et al.

Nicotine & Tobacco Research : Official Journal of the Society for Research on Nicotine and Tobacco, 2021

A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.

Moll M et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2021

Chr15q25 Genetic Variant rs16969968 Alters Cell Differentiation in Respiratory Epithelia.

Diabasana Z et al.

International Journal of Molecular Sciences, 2021

Genetic Variants in Smoking-Related Genes in Two Smoking Cessation Programs: A Cross-Sectional Study.

Pérez-Rubio G et al.

International Journal of Environmental Research and Public Health, 2021

Linking the CHRNA5 SNP to drug abuse liability: From circuitry to cellular mechanisms.

Brynildsen JK et al.

Neuropharmacology, 2021

Rare deleterious germline variants and risk of lung cancer.

Liu Y et al.

Npj Precision Oncology, 2021

Alterations in nicotinic receptor alpha5 subunit gene differentially impact early and later stages of cocaine addiction: a translational study in transgenic rats and patients.

Forget B et al.

Progress in Neurobiology, 2021

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits.

Quach BC et al.

Nature Communications, 2020

Association of CHRNA5 Gene Variants with Crack Cocaine Addiction.

Aroche AP et al.

Neuromolecular Medicine, 2020

The nicotinic receptor alpha5 coding polymorphism rs16969968 as a major target in disease: Functional dissection and remaining challenges.

Maskos U

Journal of Neurochemistry, 2020

CHRNA5 rs16969968 polymorphism is associated with lung cancer risk: A meta-analysis.

Zhou W et al.

The Clinical Respiratory Journal, 2020

Genome-Wide Meta-Analyses of FTND and TTFC Phenotypes.

Chen J et al.

Nicotine & Tobacco Research : Official Journal of the Society for Research on Nicotine and Tobacco, 2020

Association of TERT, OGG1, and CHRNA5 Polymorphisms and the Predisposition to Lung Cancer in Eastern Algeria.

Mimouni A et al.

Pulmonary Medicine, 2020

1–50 of 171 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."