Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.R1626*
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SCN2A

NM_001040142.2:p.R1626*

Associated Papers

Position-dependent effects of SCN2A premature stop codons on neuronal excitability and behavior.

Saneh AA et al.

Biorxiv : the Preprint Server for Biology, 2025

ACNP 61st Annual Meeting: Poster Abstracts P271-P540.

Unknown Author

Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2022

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
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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."