Varaico: Literature-Extracted Genetic Variants

Gene:SLCO2A1
Variant:p.G183R
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SLCO2A1

NM_005630.3:p.G183R

Associated Papers

Structure and transport mechanism of the human prostaglandin transporter SLCO2A1.

Xia Z et al.

Nature Communications, 2025

Large B-cell lymphomas with CCND1 rearrangement have different immunoglobulin gene breakpoints and genomic profile than mantle cell lymphoma.

Özoğul E et al.

Blood Cancer Journal, 2024

39313500 (PubMed )
Supplement: 41408_2024_1146_MOESM2_ESM.xlsx › S15

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

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

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

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

Sabirov RZ et al.

Life (basel, Switzerland), 2021

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Passengers

Characterization of Mineral and Bone Metabolism Biomarkers in a Chinese Consanguineous Twin Family with Primary Hypertrophic Osteoarthropathy.

Li N et al.

International Journal of Endocrinology, 2020

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

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

Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy.

Cheng R et al.

European Journal of Dermatology : Ejd, 0

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."