Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.V198D
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SCN2A

NM_001040142.2:p.V198D

Associated Papers

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

Tan M et al.

Epilepsia, 2026

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
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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."