VPS13B
Chr 8ARvacuolar protein sorting 13 homolog B
Also known as: BLTP5B, CHS1, COH1
The protein mediates lipid transfer between membranes at organelle contact sites and functions as a tethering factor in endocytic recycling pathways, with roles in Golgi assembly and nervous system development. Mutations cause Cohen syndrome, a multisystem disorder affecting the eye, hematological system, and central nervous system. Inheritance is autosomal recessive, and the gene shows high constraint against loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
VPS13B · 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
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGExercise to Fight Obesity
RECRUITINGExternal Resources
Links to major genomics databases and tools