Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.R24C
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BIN1

NM_139343.3:p.R24C

Associated Papers

Protein Amphipathic Helix Insertion: A Mechanism to Induce Membrane Fission.

Zhukovsky MA et al.

Frontiers in Cell and Developmental Biology, 2019

Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.

Hohendahl A et al.

Journal of Structural Biology, 2016

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

Garibaldi M et al.

Journal of Neuromuscular Diseases, 2016

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Böhm J et al.

Brain : a Journal of Neurology, 2014

Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy.

Fujise K et al.

The Journal of Biological Chemistry, 0

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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."