Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.K542R
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BIN1

NM_139343.3:p.K542R

Associated Papers

Nuclear BIN1 isoforms regulate c-Myc-mediated cell cycle control in oligodendrocytes.

Ma IW et al.

Biorxiv : the Preprint Server for Biology, 2025

Alzheimer's genetic risk factor Bin1 controls synapse vesicle exo-endocytosis in inhibitory synapses.

Barata MA et al.

Cell Reports, 2025

BIN1 and Alzheimer's disease: the tau connection.

Dourlen P et al.

Trends in Neurosciences, 2025

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.

Fagius J et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023

37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT et al.

Human Molecular Genetics, 2015

25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
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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."