Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.A1653E

Back to variants list

SCN1A

NM_001165963.4:p.A1653E

hg38:chr2:165992317 G>T

Associated Papers

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

LaFlamme CW et al.

Epilepsia, 2025

39932319 (PubMed )

Supplement: EPI-66-e66-s002.xlsx › Supplementary_Data_1

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."