Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R386M
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LMNA

NM_170707.4:p.R386M

Associated Papers

A nucleoskeleton network preserves genomic integrity by promoting NHEJ and restraining chromosome translocations.

Liu J et al.

Nucleic Acids Research, 2025

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins

The nucleoskeleton protein IFFO1 immobilizes broken DNA and suppresses chromosome translocation during tumorigenesis.

Li W et al.

Nature Cell Biology, 2019

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_2.XLSX › Sheet1

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

Normal and aberrant splicing of LMNA.

Luo YB et al.

Journal of Medical Genetics, 2014

Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.

Lassuthová P et al.

Pediatric Neurology, 2009

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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."