Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.K486R
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LMNA

NM_170707.4:p.K486R

Associated Papers

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

Sharma P et al.

Oncogene, 2016

Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations.

Simon DN et al.

Molecular Biology of the Cell, 2013

Laminopathies: multisystem dystrophy syndromes.

Jacob KN et al.

Molecular Genetics and Metabolism, 2006

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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."