Varaico: Literature-Extracted Genetic Variants

Gene:CORIN
Variant:p.R539C
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CORIN

NM_006587.4:p.R539C

Associated Papers

Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.

Granhøj J et al.

Kidney International Reports, 2025

41278337 (PubMed )
Supplement: mmc1.pdf

The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years.

Granhøj J et al.

Clinical Kidney Journal, 2024

39021813 (PubMed )
Supplement: sfae166_supplemental_files.zip › CKJ_Supplementary_R2.docx

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Association of rs2271037 and rs3749585 polymorphisms in CORIN with susceptibility to hypertension in a Chinese Han population: A case-control study.

Chen YL et al.

Gene, 2018

Identification and functional analysis of CORIN variants in hypertensive patients.

Zhang Y et al.

Human Mutation, 2017

PCSK6-mediated corin activation is essential for normal blood pressure.

Chen S et al.

Nature Medicine, 2015

De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay.

McMahon CJ et al.

American Journal of Medical Genetics. Part A, 2015

Corin mutations K317E and S472G from preeclamptic patients alter zymogen activation and cell surface targeting. [Corrected].

Dong N et al.

The Journal of Biological Chemistry, 2014

Corin mutation R539C from hypertensive patients impairs zymogen activation and generates an inactive alternative ectodomain fragment.

Dong N et al.

The Journal of Biological Chemistry, 2013

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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."