VPS13D vacuolar protein sorting 13 homolog D
Gene ID: 55187, updated on 6-Oct-2024Gene type: protein coding
Also known as: SCA24; SCAR4; SCASI; BLTP5D
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- Go to Variation Viewer for VPS13D variants
Summary
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]
Associated conditions
Genomic context
- Location:
- 1p36.22-p36.21
- Sequence:
- Chromosome: 1; NC_000001.11 (12230030..12512047)
- Total number of exons:
- 70
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for VPS13D variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- VPS13D gene homepage - vacuolar protein sorting 13 homolog D
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