CYP2R1 Back

cytochrome P450, family 2, subfamily R, polypeptide 1

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

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.

Community Annotation of CYP2R1 Add / Edit CYP2R1: Annotations

No community annotations yet for CYP2R1.
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).


CYP2R1 is highly significantly mutated in
CYP2R1 is significantly mutated in
CYP2R1 is near significance in

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

Data details

Mutation list for CYP2R1