VPS13D
Chr 1ARvacuolar protein sorting 13 homolog D
Also known as: BLTP5D, SCA24, SCAR4, SCASI
This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]
Limited evidence — not for standalone diagnostic reporting
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
1836 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 38 | 1 | 0 | 0 | 39 |
Likely Pathogenic | 26 | 9 | 3 | 0 | 38 |
VUS | 2 | 915 | 21 | 5 | 943 |
Likely Benign | 0 | 27 | 206 | 385 | 618 |
Benign | 0 | 15 | 45 | 35 | 95 |
Conflicting | — | 34 | |||
| Total | 66 | 967 | 275 | 425 | 1,767 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →38 pathogenic / likely-pathogenic (of 56) ClinVar copy-number / structural variants overlap VPS13D — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
VPS13D · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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