Varaico: Literature-Extracted Genetic Variants

Gene:VDR
Variant:p.Q385K
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VDR

NM_000376.3:p.Q385K

Associated Papers

Vitamin D-dependent suppression of human atrial natriuretic peptide gene promoter activity requires heterodimer assembly.

Chen S et al.

The Journal of Biological Chemistry, 1999

Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner.

Whitfield GK et al.

Molecular Endocrinology (baltimore, Md.), 1996

The C-terminal region of the vitamin D receptor is essential to form a complex with a receptor auxiliary factor required for high affinity binding to the vitamin D-responsive element.

Nakajima S et al.

Molecular Endocrinology (baltimore, Md.), 1994

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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."