rs1023130700
This variant is located in the OSBPL8 gene.
▶ClinVar annotation
About OSBPL8
This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
View all OSBPL8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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