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GEFSP2

Chr 2

sodium voltage-gated channel alpha subunit 1

Also known as: DEE6, DEE6A, DEE6B, DRVT, EIEE6, FEB3, FEB3A, FHM3

NCBI Gene: 6323

Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
5
Active trials
0
Pubs (1 yr)
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P/LP submissions
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P/LP missense
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LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/GEFSP2?content-type=application/json

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

GEFSP2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients