Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2C
Variant:p.S840I
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GUCY2C

NM_004963.4:p.S840I

Associated Papers

Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Congenital diarrhea and enteropathies caused by a heterozygous mutation in the GUCY2C gene: a rare case report.

Yuan C et al.

Frontiers in Pediatrics, 2025

The genetics of monogenic intestinal epithelial disorders.

Babcock SJ et al.

Human Genetics, 2023

Gut-associated cGMP mediates colitis and dysbiosis in a mouse model of an activating mutation in GUCY2C.

Mishra V et al.

The Journal of Experimental Medicine, 2021

Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach.

Wolfe RM et al.

American Journal of Medical Genetics. Part A, 2021

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

Müller T et al.

Gut, 2016

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.

Smith A et al.

European Journal of Human Genetics : Ejhg, 2015

Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies.

Canani RB et al.

Nature Reviews. Gastroenterology & Hepatology, 2015

Guanylate cyclase-C receptor activation: unexpected biology.

Brierley SM

Current Opinion in Pharmacology, 2012

New insights into familial diarrhea syndrome.

Hawkins AK

Clinical Genetics, 2012

Guanylate cyclase C signaling: an intestinal secretory pathway where bugs, genes and new drugs intersect.

Camilleri M

Genome Medicine, 2012

Familial diarrhea syndrome caused by an activating GUCY2C mutation.

Fiskerstrand T et al.

The New England Journal of Medicine, 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."