Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN8A

Variant:p.G1625_I1627ins1

Back to variants list

SCN8A

NM_001330260.2:p.G1625_I1627ins1

hg38:chr12:51806358 T>TGGGCGCATC

Associated Papers

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.

Stringer RN et al.

Molecular Brain, 2021

34399820 (PubMed )

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."