SORL1 Back

sortilin-related receptor, L(DLR class) A repeats-containing

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of SORL1
This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded protein is translated as a preproprotein and likely plays roles in endocytosis and sorting. There may be an association between expression of this locus and Alzheimer's Disease. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Community Annotation of SORL1 Add / Edit SORL1: Annotations

No community annotations yet for SORL1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

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

SORL1 is highly significantly mutated in
(none)
SORL1 is significantly mutated in
(none)
SORL1 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for SORL1