rs1014482388
This variant is located in the VPS13D gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout VPS13D
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]
View all VPS13D variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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