Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.R753Q
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AR

NM_000044.6:p.R753Q

Associated Papers

A hotspot for posttranslational modifications on the androgen receptor dimer interface drives pathology and anti-androgen resistance.

Alegre-Martí A et al.

Science Advances, 2023

36921044 (PubMed )
Supplement: sciadv.ade2175_sm.pdf

Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome.

Liu Q et al.

Journal of Endocrinological Investigation, 2023

Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome.

Kumar A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis.

Heng AHS et al.

Bmc Medical Genomics, 2021

Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease.

Jiménez-Panizo A et al.

Endocrine-related Cancer, 2019

Structure of the homodimeric androgen receptor ligand-binding domain.

Nadal M et al.

Nature Communications, 2017

Androgen receptor gene mutation, rearrangement, polymorphism.

Eisermann K et al.

Translational Andrology and Urology, 2013

Androgen insensitivity syndrome.

Hughes IA et al.

Seminars in Reproductive Medicine, 2012

The androgen receptor gene mutations database: 2012 update.

Gottlieb B et al.

Human Mutation, 2012

Androgen receptor gene polymorphisms and alterations in prostate cancer: of humanized mice and men.

Robins DM

Molecular and Cellular Endocrinology, 2012

Treatment-dependent androgen receptor mutations in prostate cancer exploit multiple mechanisms to evade therapy.

Steinkamp MP et al.

Cancer Research, 2009

Profiling human androgen receptor mutations reveals treatment effects in a mouse model of prostate cancer.

O'Mahony OA et al.

Molecular Cancer Research : Mcr, 2008

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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."