Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.C645S
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NR3C2

NM_000901.5:p.C645S

Associated Papers

30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.

Zennaro MC et al.

The Journal of Endocrinology, 2017

Crystal structure of the mineralocorticoid receptor DNA binding domain in complex with DNA.

Hudson WH et al.

Plos One, 2014

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Clinical and molecular features of type 1 pseudohypoaldosteronism.

Riepe FG

Hormone Research, 2009

Molecular pathogenesis of renal pseudohypoaldosteronism type 1.

Riepe FG

Expert Review of Endocrinology & Metabolism, 2007

Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.

Pujo L et al.

Human Mutation, 2007

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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."