Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.R429C
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SCN9A

NM_001365536.1:p.R429C

Associated Papers

SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association.

Ghanty I et al.

Epilepsia, 2025

Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants.

Greco V et al.

Medicina (kaunas, Lithuania), 2025

40731902 (PubMed )
Supplement: medicina-61-01273-s001.zip › medicina-3732903-supplementary.xlsx › Foglio1

Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.

Waheed S et al.

Plos One, 2024

No evidence that SCN9A variants are associated with epilepsy.

Brunklaus A

Seizure, 2021

Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.

Baker MD et al.

Pflugers Archiv : European Journal of Physiology, 2020

Novel mutations in SCN9A occurring with fever-associated seizures or epilepsy.

Ding J et al.

Seizure, 2019

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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."