Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.S22L
Back to variants list

LMNA

NM_170707.4:p.S22L

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

Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies.

Zielińska A et al.

Cells, 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

Effects of mutant lamins on nucleo-cytoskeletal coupling in Drosophila models of LMNA muscular dystrophy.

Shaw NM et al.

Frontiers in Cell and Developmental Biology, 2022

Modulation of muscle redox and protein aggregation rescues lethality caused by mutant lamins.

Coombs GS et al.

Redox Biology, 2021

Phosphorylation of Lamin A/C at serine 22 modulates Nav 1.5 function.

Olaopa MA et al.

Physiological Reports, 2021

Nuclear lamin phosphorylation: an emerging role in gene regulation and pathogenesis of laminopathies.

Liu SY et al.

Nucleus (austin, Tex.), 2020

Intermediate filaments in cardiomyopathy.

Tsikitis M et al.

Biophysical Reviews, 2018

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

Phosphorylation of lamins determine their structural properties and signaling functions.

Torvaldson E et al.

Nucleus (austin, Tex.), 2015

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

Nuclear envelope defects in muscular dystrophy.

Roux KJ et al.

Biochimica Et Biophysica Acta, 2007

LMNA mutations in cardiac transplant recipients.

Pethig K et al.

Cardiology, 2005

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

Goizet C et al.

Journal of Medical Genetics, 2004

Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy.

Broch K et al.

Open Heart, 0

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

Captur G et al.

Open Heart, 0

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."