Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.C1344Y
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SCN2A

NM_001040142.2:p.C1344Y

Associated Papers

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.

Crawford K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33731876 (PubMed )
Supplement: 41436_2021_1120_MOESM1_ESM.pdf

Molecular basis for pore blockade of human Na+ channel Nav1.2 by the μ-conotoxin KIIIA.

Pan X et al.

Science (new York, N.y.), 2019

30765605 (PubMed )
Supplement: aaw2999-pan-sm.pdf
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