CD320 Back

CD320 molecule

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NCBI Description of CD320

This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Community Annotation of CD320 Add / Edit CD320: Annotations

No community annotations yet for CD320.
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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

CD320 is highly significantly mutated in
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CD320 is significantly mutated in
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CD320 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 CD320