Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.S22A
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LMNA

NM_170707.4:p.S22A

Associated Papers

Phosphorylation-dependent modulation of the Lamin A/C-EZH2 complex regulates epithelial-mesenchymal plasticity.

Ak B et al.

Nucleic Acids Research, 2026

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

Cytomegalovirus disrupts Lamin A/C to control microtubule-mediated nuclear movement and cell migration.

Mahmud J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Mitotic DNA repair by TMEJ suppresses replication stress-induced nuclear envelope reassembly defect.

Ye G et al.

Nature Communications, 2025

DeepMVP: deep learning models trained on high-quality data accurately predict PTM sites and variant-induced alterations.

Wen B et al.

Nature Methods, 2025

A SETD2-CDK1-lamin axis maintains nuclear morphology and genome stability.

Khan A et al.

Nature Cell Biology, 2025

Phosphorylation of Lamin A/C regulates the structural integrity of the nuclear envelope.

Liu S et al.

The Journal of Biological Chemistry, 2025

Dynamic Post-translational Modifications of Nuclear Lamins in Cellular Function and Pathophysiology.

Sharma A et al.

Sub-cellular Biochemistry, 2025

Lamin A/C and PI(4,5)P2-A Novel Complex in the Cell Nucleus.

Escudeiro-Lopes S et al.

Cells, 2024

SETD2 maintains nuclear lamina stability to safeguard the genome.

Khan A et al.

Biorxiv : the Preprint Server for Biology, 2023

Lamin A/C phosphorylation at serine 22 is a conserved heat shock response to regulate nuclear adaptation during stress.

Virtanen L et al.

Journal of Cell Science, 2023

Overview of cellular homeostasis-associated nuclear envelope lamins and associated input signals.

Kim HJ et al.

Frontiers in Cell and Developmental Biology, 2023

Cyclin-dependent kinase 1 depolymerizes nuclear lamin filaments by disrupting the head-to-tail interaction of the lamin central rod domain.

Jeong S et al.

The Journal of Biological Chemistry, 2022

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

Olaopa MA et al.

Physiological Reports, 2021

Tyrosine phosphorylation of lamin A by Src promotes disassembly of nuclear lamina in interphase.

Chu CT et al.

Life Science Alliance, 2021

Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome.

Köhler F et al.

Genome Medicine, 2020

Phosphorylated Lamin A/C in the Nuclear Interior Binds Active Enhancers Associated with Abnormal Transcription in Progeria.

Ikegami K et al.

Developmental Cell, 2020

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

Permanent farnesylation of lamin A mutants linked to progeria impairs its phosphorylation at serine 22 during interphase.

Moiseeva O et al.

Aging, 2016

Matrix elasticity regulates lamin-A,C phosphorylation and turnover with feedback to actomyosin.

Buxboim A et al.

Current Biology : Cb, 2014

Interphase phosphorylation of lamin A.

Kochin V et al.

Journal of Cell Science, 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."