Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.K119R
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SMN1

NM_000344.4:p.K119R

Associated Papers

SMN post-translational modifications in spinal muscular atrophy.

Riboldi GM et al.

Frontiers in Cellular Neuroscience, 2023

Hyper-SUMOylation of SMN induced by SENP2 deficiency decreases its stability and leads to spinal muscular atrophy-like pathology.

Zhang Y et al.

Journal of Molecular Medicine (berlin, Germany), 2021

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

Sedghi M et al.

Annals of Clinical and Translational Neurology, 2019

CBP-mediated SMN acetylation modulates Cajal body biogenesis and the cytoplasmic targeting of SMN.

Lafarga V et al.

Cellular and Molecular Life Sciences : Cmls, 2018

The SMN Tudor SIM-like domain is key to SmD1 and coilin interactions and to Cajal body biogenesis.

Tapia O 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."