VLDLR Back

very low density lipoprotein receptor

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NCBI Description of VLDLR

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene.

Community Annotation of VLDLR Add / Edit VLDLR: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

VLDLR is highly significantly mutated in
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VLDLR is significantly mutated in
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VLDLR is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for VLDLR