Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN2A

Variant:p.R1632_I1633insFs

Back to variants list

SCN2A

NM_001040142.2:p.R1632_I1633insFs

hg38:chr2:165388702 G>GT

Associated Papers

Decoding SCN2A Variants: Bridging Genetics and Phenotypes in Autism Spectrum Disorder.

DiStefano N et al.

Journal of Clinical Medicine, 2025

40507552 (PubMed )

Improvement of variant reclassification in genetic neurodevelopmental conditions.

Kowanda M et al.

Genetics in Medicine Open, 2024

39669614 (PubMed )

Supplement: mmc2.xlsx › Classification_criteria_applied

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."