K45E (p.Lys45Glu) variant of VDR (Vitamin D3 receptor)
K45E (p.Lys45Glu) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in VDDR2A. The record also includes published literature and structural context.
K45E (p.Lys45Glu) variant details
- p.Lys45Glu
- UniProt VAR 004658
- Pathogenic
- in VDDR2A
- Missense
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Structural context available
- Cited in: Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding… (PMID 7828346)
- Cited in: A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II… (PMID 1652893)