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Results for the Protein: Q6VVX0
62286619

CP2R1_HUMAN RecName: Full=Vitamin D 25-hydroxylase; AltName: Full=Cytochrome P450 2R1

Known Diseases associated with this Protein:
  RICKETS VITAMIN D-DEPENDENT 1B (VDDR1B)
  VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
2
0
1
0
1
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Default View:

CypX - COG2124
p450 - pfam00067


Swiss-Prot Protein: Q6VVX0
Identical to: NP_078790
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CypXCOG21245e-4137501
p450pfam000674e-14940498

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021534Diseasep.LEU99PRORickets vitamin D-dependent 1B (VDDR1B)
OMIM608713.0001 Diseasep.LEU99PROVITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B



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