Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.G21E
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AR

NM_000044.6:p.G21E

Associated Papers

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity.

Lim WF et al.

Science Advances, 2021

Preventing the Androgen Receptor N/C Interaction Delays Disease Onset in a Mouse Model of SBMA.

Zboray L et al.

Cell Reports, 2015

Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy.

Scaramuzzino C et al.

Neuron, 2015

Structural features discriminate androgen receptor N/C terminal and coactivator interactions.

Askew EB et al.

Molecular and Cellular Endocrinology, 2012

Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy.

Nedelsky NB et al.

Neuron, 2010

Dual function of an amino-terminal amphipatic helix in androgen receptor-mediated transactivation through specific and nonspecific response elements.

Callewaert L et al.

The Journal of Biological Chemistry, 2003

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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."