The SCN8A gene homepage

General information
Gene symbol SCN8A
Gene name sodium channel, voltage gated, type VIII, alpha subunit
Chromosome 12
Chromosomal band q13.1
Imprinted Unknown
Genomic reference LRG_1389
Transcript reference NM_001330260.2, NM_014191.3
Associated with diseases BFIS5, CIAT, DEE13, MYOCL2
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 270
Unique public DNA variants reported 208
Individuals with public variants 153
Hidden variants 25
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 09, 2012
Date last updated September 07, 2023
Version SCN8A:230907

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 10596
Entrez Gene 6334
PubMed articles SCN8A
OMIM - Gene 600702
OMIM - Diseases BFIS5 (Seizures, benign familial infantile, 5)
CIAT (cognitive impairment, ataxia, cerebellar (CIAT))
DEE13 (encephalopathy, developmental and epileptic, type 13 (DEE13))
MYOCL2 (?Myoclonus, familial, 2)
GeneCards SCN8A
GeneTests SCN8A
Orphanet SCN8A

Active transcripts




NCBI ID     

NCBI Protein ID     

00025619 12 transcript variant 1 NM_014191.3 NP_055006.1 269
00025703 12 transcript variant 3 NM_001330260.2 NP_001317189.1 38

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