NAIF1
Chr 9nuclear apoptosis inducing factor 1
The protein induces apoptosis as part of normal cellular processes. Mutations in NAIF1 cause autosomal recessive intellectual disability with epilepsy and autism spectrum disorder. The gene shows moderate constraint against loss-of-function variants, and affected individuals typically present with neurodevelopmental delays and seizures in early childhood.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NAIF1 · 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 →External Resources
Links to major genomics databases and tools