VPS13D
Chr 1ARvacuolar protein sorting 13 homolog D
The protein belongs to the vacuolar-protein-sorting-13 family and functions in trafficking membrane proteins between the trans-Golgi network and prevacuolar compartment. Biallelic mutations cause spinocerebellar ataxia, autosomal recessive 4, following an autosomal recessive inheritance pattern. The gene is highly intolerant to loss-of-function variants, suggesting pathogenicity occurs through disrupted intracellular membrane protein trafficking.
Limited evidence — not for standalone diagnostic reporting
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
VPS13D · 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