Varaico: Literature-Extracted Genetic Variants

Gene:UNC13A
Variant:p.V839M
Back to variants list

UNC13A

NM_001080421.3:p.V839M

Associated Papers

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Asadollahi R et al.

Nature Genetics, 2025

41125872 (PubMed )
Supplement: 41588_2025_2361_MOESM6_ESM.xlsx › VUS
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."