Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.A242V
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LMNA

NM_170707.4:p.A242V

Associated Papers

Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.

Cortázar MA et al.

Biorxiv : the Preprint Server for Biology, 2025

41509423 (PubMed )
Supplement: media-2.xlsx › mRNA_expression

Primate Model Carrying LMNA Mutation Develops Dilated Cardiomyopathy.

Luo X et al.

Jacc. Basic to Translational Science, 2024

38559624 (PubMed )
Supplement: mmc1.docx

Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.

Lian H et al.

Journal of Translational Medicine, 2023

37461109 (PubMed )
Supplement: 12967_2023_4282_MOESM3_ESM.xls › Table_S3

Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular cardiomyopathy/dysplasia with right ventricular heart failure, cerebral thromboembolism and hereditary electrocardiogram abnormality.

Chen J et al.

Orphanet Journal of Rare Diseases, 2022

Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive.

Castrini AI et al.

Journal of the American Heart Association, 2022

35434999 (PubMed )
Supplement: JAH3-11-e024960-s001.pdf

Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.

Murdock DR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

28663758 (PubMed )
Supplement: Table_1.XLSX › ExAC

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 0

30402260 (PubMed )
Supplement: openhrt-2018-000915supp001.docx
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