Varaico: Literature-Extracted Genetic Variants

Gene:SLCO2A1
Variant:p.G222R
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SLCO2A1

NM_005630.3:p.G222R

Associated Papers

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

Mohammad M et al.

Cureus, 2025

Structure and transport mechanism of the human prostaglandin transporter SLCO2A1.

Xia Z et al.

Nature Communications, 2025

Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for SLCO2A1 variants.

Arcanjo AM et al.

Jbmr Plus, 2025

A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly.

Nakano Y et al.

Bone Reports, 2023

Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study.

Hong HS et al.

Gut and Liver, 2022

Primary Hypertrophic Osteoarthropathy With Myelofibrosis.

Yousaf M et al.

Cureus, 2022

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

Eicosanoid profiling in patients with complete form of pachydermoperiostosis carrying SLCO2A1 mutations.

Oiwa T et al.

The Journal of Dermatology, 2021

Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy.

Xu Y et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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

The ATP-Releasing Maxi-Cl Channel: Its Identity, Molecular Partners and Physiological/Pathophysiological Implications.

Sabirov RZ et al.

Life (basel, Switzerland), 2021

Chloride Channels in Astrocytes: Structure, Roles in Brain Homeostasis and Implications in Disease.

Elorza-Vidal X et al.

International Journal of Molecular Sciences, 2019

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

Roles of Organic Anion Transporting Polypeptide 2A1 (OATP2A1/SLCO2A1) in Regulating the Pathophysiological Actions of Prostaglandins.

Nakanishi T et al.

The Aaps Journal, 2017

Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy.

Guo T et al.

Molecular Medicine Reports, 2017

A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter.

Umeno J et al.

Plos Genetics, 2015

Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization.

Zhang Z et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.

Diggle CP et al.

Human Mutation, 2012

Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy.

Zhang Z et al.

American Journal of Human Genetics, 2012

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."