Varaico: Literature-Extracted Genetic Variants

Gene:CORIN
Variant:p.K317E
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CORIN

NM_006587.4:p.K317E

Associated Papers

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Andersen OM et al.

Molecular Neurodegeneration, 2025

41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

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

Chen S et al.

Nature Medicine, 2015

Distinct roles of N-glycosylation at different sites of corin in cell membrane targeting and ectodomain shedding.

Wang H et al.

The Journal of Biological Chemistry, 2015

A corin variant identified in hypertensive patients that alters cytoplasmic tail and reduces cell surface expression and activity.

Zhang Y et al.

Scientific Reports, 2014

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

Highly significant association between two common single nucleotide polymorphisms in CORIN gene and preeclampsia in Caucasian women.

Stepanian A et al.

Plos One, 2014

Role of corin in trophoblast invasion and uterine spiral artery remodelling in pregnancy.

Cui Y et al.

Nature, 2012

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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."