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BFIS1
Chr 19ADbenign familial infantile convulsions
Also known as: BFIC, BFIC1
The protein encoded by this gene functions in neuronal excitability and seizure threshold regulation. Mutations cause benign familial infantile seizures with onset typically in the first year of life, characterized by clusters of seizures that generally resolve spontaneously without long-term neurological sequelae. The condition follows autosomal dominant inheritance with high penetrance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/BFIS1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BFIS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools