Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.N770K
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NR3C2

NM_000901.5:p.N770K

Associated Papers

30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.

Zennaro MC et al.

The Journal of Endocrinology, 2017

Pseudohypoaldosteronisms, report on a 10-patient series.

Belot A et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008

Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase.

Yip YL et al.

Human Mutation, 2008

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."