Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA2
Variant:p.T22I
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CHRNA2

NM_000742.4:p.T22I

Associated Papers

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.

Makhmetov S et al.

Heliyon, 2025

39834405 (PubMed )
Supplement: mmc4.xlsx › Sheet1

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology.

Becchetti A et al.

Brain Sciences, 2020

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

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

Yang J et al.

Molecular Psychiatry, 2015

Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations.

Wang S et al.

Human Genetics, 2014

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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."