Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.K201R
Back to variants list

LMNA

NM_170707.4:p.K201R

Associated Papers

The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.

Ghosh DK et al.

Aging Cell, 2022

Targeted Regulation of Nuclear Lamins by Ubiquitin and Ubiquitin-Like Modifiers.

Blank M

Cells, 2020

Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations.

Gonzalo S et al.

Ageing Research Reviews, 2017

SENP1-modulated sumoylation regulates retinoblastoma protein (RB) and Lamin A/C interaction and stabilization.

Sharma P et al.

Oncogene, 2016

Lamin A reassembly at the end of mitosis is regulated by its SUMO-interacting motif.

Moriuchi T et al.

Experimental Cell Research, 2016

Long-term expression of the lamin A mutant associated with dilated cardiomyopathy induces senescence.

Moriuchi T et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2014

Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.

Zhang YQ et al.

The Journal of Cell Biology, 2008

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."