RAPGEF5
Chr 7Rap guanine nucleotide exchange factor 5
Also known as: GFR, MR-GEF, MRGEF, REPAC
RAPGEF5 encodes a guanine nucleotide exchange factor that activates RAP1A, RAP2A, and MRAS by promoting their GTP-bound active states in cellular signaling pathways. Mutations cause autosomal dominant developmental and epileptic encephalopathy with onset in infancy, characterized by seizures, developmental delay, and intellectual disability. The gene is highly constrained against loss-of-function variants (pLI 0.98), indicating intolerance to protein-truncating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RAPGEF5 · 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