Varaico: Literature-Extracted Genetic Variants

Gene:REN
Variant:p.C20R
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REN

NM_000537.4:p.C20R

Associated Papers

Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease.

Schaeffer C et al.

Disease Models & Mechanisms, 2023

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.

Živná M et al.

Kidney International, 2020

Clinical and genetic spectra of kidney disease caused by REN mutations.

Schaeffer C et al.

Kidney International, 2020

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.

Schaeffer C et al.

Scientific Reports, 2019

An Extensive Study of the Functional Polymorphisms of Kinin-Kallikrein System in Rheumatoid Arthritis Susceptibility.

Chatzikyriakidou A et al.

Archives of Rheumatology, 2018

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

Clissold RL et al.

Bmc Nephrology, 2017

Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.

Al-Hamed MH et al.

Clinical Kidney Journal, 2016

Convert your favorite protein modeling program into a mutation predictor: "MODICT".

Tanyalcin I et al.

Bmc Bioinformatics, 2016

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.

Bleyer AJ et al.

Clinical Nephrology, 2010

CYP11B2 -344T/C gene polymorphism and blood pressure in patients with acromegaly.

Mulatero P et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease].

Magistroni R et al.

Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia, 0

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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."