Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.M807R
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NR3C2

NM_000901.5:p.M807R

Associated Papers

Androgen receptor mutations causing human androgen insensitivity syndromes show a key role of residue M807 in Helix 8-Helix 10 interactions and in receptor ligand-binding domain stability.

Ong YC et al.

Molecular Human Reproduction, 2002

A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro.

Adeyemo O et al.

Human Molecular Genetics, 1993

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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."