Varaico: Literature-Extracted Genetic Variants

Gene:VDR
Variant:p.K264E
Back to variants list

VDR

NM_000376.3:p.K264E

Associated Papers

Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia.

Zhou Y et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009

A novel mutation in helix 12 of the vitamin D receptor impairs coactivator interaction and causes hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.

Malloy PJ et al.

Molecular Endocrinology (baltimore, Md.), 2002

Mutations in the 1,25-dihydroxyvitamin D3 receptor identifying C-terminal amino acids required for transcriptional activation that are functionally dissociated from hormone binding, heterodimeric DNA binding, and interaction with basal transcription factor IIB, in vitro.

Jurutka PW et al.

The Journal of Biological Chemistry, 1997

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."