CYP2R1 Back

cytochrome P450, family 2, subfamily R, polypeptide 1

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NCBI Description of CYP2R1
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency.

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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

CYP2R1 is highly significantly mutated in
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CYP2R1 is significantly mutated in
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CYP2R1 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 CYP2R1