Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.A100G
Back to variants list

SMN2

NM_017411.4:p.A100G

Associated Papers

HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element.

Jiang T et al.

Journal of Medical Genetics, 2023

A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy.

Wang L et al.

Human Molecular Genetics, 2023

Structural Context of a Critical Exon of Spinal Muscular Atrophy Gene.

Singh NN et al.

Frontiers in Molecular Biosciences, 2022

RNA in spinal muscular atrophy: therapeutic implications of targeting.

Singh RN et al.

Expert Opinion on Therapeutic Targets, 2020

Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes.

Singh RN et al.

Advances in Neurobiology, 2018

Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions.

Singh NN et al.

Annals of the New York Academy of Sciences, 2015

Advances in therapeutic development for spinal muscular atrophy.

Howell MD et al.

Future Medicinal Chemistry, 2014

An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy.

Singh NN et al.

Nucleic Acids Research, 2013

Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model.

Bebee TW et al.

Human Molecular Genetics, 2012

Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice.

Hua Y et al.

American Journal of Human Genetics, 2008

Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model.

Singh NN et al.

Rna Biology, 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."