LDLRAP1 Back

low density lipoprotein receptor adaptor protein 1

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NCBI Description of LDLRAP1
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia.

Community Annotation of LDLRAP1 Add / Edit LDLRAP1: 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

LDLRAP1 is highly significantly mutated in
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LDLRAP1 is significantly mutated in
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LDLRAP1 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 LDLRAP1