Varaico: Literature-Extracted Genetic Variants

Gene:VDR
Variant:p.E420Q
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VDR

NM_000376.3:p.E420Q

Associated Papers

DDX5 is a multifunctional co-activator of steroid hormone receptors.

Wagner M et al.

Molecular and Cellular Endocrinology, 2012

Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.

Malloy PJ et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011

Vitamin D receptor deficiency enhances Wnt/β-catenin signaling and tumor burden in colon cancer.

Larriba MJ et al.

Plos One, 2011

Vitamin D receptor ligands, adenomatous polyposis coli, and the vitamin D receptor FokI polymorphism collectively modulate beta-catenin activity in colon cancer cells.

Egan JB et al.

Molecular Carcinogenesis, 2010

Alternative promoters and renal cell-specific regulation of the mouse type IIa sodium-dependent phosphate cotransporter gene.

Yamamoto H et al.

Biochimica Et Biophysica Acta, 2005

Enhanced coactivator binding and transcriptional activation of mutant vitamin D receptors from patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets by phosphorylation and vitamin D analogs.

Liu Y et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005

Lysine 246 of the vitamin D receptor is crucial for ligand-dependent interaction with coactivators and transcriptional activity.

Jiménez-Lara AM et al.

The Journal of Biological Chemistry, 1999

A novel protein complex that interacts with the vitamin D3 receptor in a ligand-dependent manner and enhances VDR transactivation in a cell-free system.

Rachez C et al.

Genes & Development, 1998

Characterization of the activation function-2 domain of the human 1,25-dihydroxyvitamin D3 receptor.

Nakajima S et al.

Molecular and Cellular Endocrinology, 1998

Evidence for ligand-dependent intramolecular folding of the AF-2 domain in vitamin D receptor-activated transcription and coactivator interaction.

Masuyama H et al.

Molecular Endocrinology (baltimore, Md.), 1997

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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."