RABEPK
Chr 9Rab9 effector protein with kelch motifs
Also known as: RAB9P40, bA65N13.1, p40
The protein functions as a Rab9 effector required for endosome to trans-Golgi network transport and is predicted to be involved in receptor-mediated endocytosis and vesicle docking during exocytosis. Based on the extremely low pLI score (2.8x10⁻¹¹) and elevated LOEUF score (1.392), this gene appears highly tolerant to loss-of-function mutations, suggesting pathogenic variants may not cause severe disease. No specific diseases or inheritance patterns have been established for RABEPK mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RABEPK · 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