Varaico: Literature-Extracted Genetic Variants

Gene:SLCO2A1
Variant:p.F277delFs
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SLCO2A1

NM_005630.3:p.F277delFs

Associated Papers

Pachydermoperiostosis Associated With a Rare SLCO2A1 Mutation: A Case Report and Literature Review.

Mohammad M et al.

Cureus, 2025

Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.

Kimball TN et al.

American Journal of Medical Genetics. Part A, 2024

Functional analysis of mutant SLCO2A1 transporters found in patients with chronic enteropathy associated with SLCO2A1.

Seki S et al.

Journal of Gastroenterology and Hepatology, 2022

Four Variants of SLCO2A1 Identified in Three Chinese Patients with Chronic Enteropathy Associated with the SLCO2A1 Gene.

Huang H et al.

Digestive Diseases and Sciences, 2021

Recent advances in studies of SLCO2A1 as a key regulator of the delivery of prostaglandins to their sites of action.

Nakanishi T et al.

Pharmacology & Therapeutics, 2021

Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn's disease.

Umeno J et al.

Journal of Gastroenterology, 2018

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study.

Hou Y et al.

Bone, 2018

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S10_CC-1_coding_Indels

Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly.

Mangupli R et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2017

Chronic Enteropathy Associated with SLCO2A1 Gene.

Umeno J et al.

Inflammatory Intestinal Diseases, 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."