Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.C736G
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NR3C1

NM_000176.3:p.C736G

Associated Papers

A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance.

Charmandari E et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

The three-dimensional structures of antagonistic and agonistic forms of the glucocorticoid receptor ligand-binding domain: RU-486 induces a transconformation that leads to active antagonism.

Kauppi B et al.

The Journal of Biological Chemistry, 2003

Glucocorticoid resistant syndromes--molecular basis and clinical presentations.

Brönnegård M et al.

Journal of Neuroendocrinology, 1996

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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."