Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.R850P
Back to variants list

SCN2A

NM_001040142.2:p.R850P

Associated Papers

Sodium channelopathies of skeletal muscle and brain.

Mantegazza M et al.

Physiological Reviews, 2021

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

Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum.

Suddaby JS et al.

Psychiatric Genetics, 2019

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

Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.

Carroll LS et al.

Psychiatric Genetics, 2016

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."