CFLAR
Chr 2CASP8 and FADD like apoptosis regulator
The protein encoded by CFLAR regulates apoptosis by inhibiting TNFRSF6-mediated cell death and blocking caspase-8 processing in the death-inducing signaling complex. Mutations cause autosomal recessive immunodeficiency with recurrent infections, lymphoproliferation, and autoimmunity. The gene is highly constrained against loss-of-function variants, indicating that biallelic mutations are required for disease.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CFLAR · 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