Varaico: Literature-Extracted Genetic Variants

Gene:SLCO2A1
Variant:p.R314Splc
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SLCO2A1

NM_005630.3:p.R314Splc

Associated Papers

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

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene: A case report and review of literature.

Wang JY et al.

World Journal of Gastrointestinal Endoscopy, 2025

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary

Endocrine Alterations in Patients With Pachydermoperiostosis.

Stelmachowska-Banaś M et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

Mohammad M et al.

Cureus, 2025

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary

Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease.

Lim JG et al.

Bmc Pediatrics, 2024

A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy.

Dai Y et al.

Orphanet Journal of Rare Diseases, 2024

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

Attenuated Expression of SLCO2A1 Caused by DNA Methylation in Pediatric Inflammatory Bowel Disease.

Ito N et al.

Inflammatory Bowel Diseases, 2023

Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis.

Pasumarthi D et al.

The Indian Journal of Medical Research, 2023

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

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

[A case of chronic enteropathy associated with SLCO2A1 gene diagnosed by capsule endoscopy and successfully treated by ferric carboxymaltose].

Harada A et al.

Nihon Shokakibyo Gakkai Zasshi = the Japanese Journal of Gastro-enterology, 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

Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1.

Ishizuka T et al.

Modern Rheumatology Case Reports, 2021

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

Sabirov RZ et al.

Life (basel, Switzerland), 2021

Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.

Lv S et al.

Frontiers in Cell and Developmental Biology, 2021

34557487 (PubMed )
Supplement: Table_1.XLSX › table_S1

Obscure gastrointestinal bleeding caused by congenital enteropathy in a Chinese young child-a case report.

Fang Y et al.

Bmc Pediatrics, 2020

Characteristic Facial Appearance Was the Key to Diagnosing Chronic Enteropathy Associated with SLCO2A1-associated Primary Hypertrophic Osteoarthropathy.

Sonoda A et al.

Internal Medicine (tokyo, Japan), 2020

A novel mutation in the SLCO2A1 gene, encoding a prostaglandin transporter, induces chronic enteropathy.

Jimbo K et al.

Plos One, 2020

Successful treatment of pachydermoperiostosis with etoricoxib in a patient with a homozygous splice-site mutation in the SLCO2A1 gene.

Li Z et al.

The British Journal of Dermatology, 2019

Distinction between Chronic Enteropathy Associated with the SLCO2A1 Gene and Crohn's Disease.

Yanai S et al.

Gut and Liver, 2019

Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis.

Yuan L et al.

Endocrine Connections, 2018

Successful azathioprine treatment in an adolescent with chronic enteropathy associated with SLCO2A1 gene: A case report.

Eda K et al.

Medicine, 2018

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

A male Korean who was diagnosed with chronic enteropathy associated with SLCO2A1 (CEAS): case report with literature review.

Sun X et al.

Bmj Open 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

Complete type of pachydermoperiostosis with a novel mutation c.510G>A of the SLCO2A1 gene.

Nakazawa S et al.

The Journal of Dermatology, 2017

Chronic Enteropathy Associated With SLCO2A1 Gene [CEAS]-Characterisation of an Enteric Disorder to be Considered in the Differential Diagnosis of Crohn's Disease.

Hosoe N et al.

Journal of Crohn's & Colitis, 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

Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.

Lee S et al.

Journal of Korean Medical Science, 2016

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

Umeno J et al.

Plos Genetics, 2015

Case of pachydermoperiostosis with solute carrier organic anion transporter family, member 2A1 (SLCO2A1) mutations.

Minakawa S et al.

The Journal of Dermatology, 2015

Complete form of pachydermoperiostosis with SLCO2A1 gene mutation in a Korean family.

Kim HJ et al.

The Journal of Dermatology, 2015

The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene.

Niizeki H et al.

Journal of Dermatological Science, 2014

Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation-case report and review of literature.

Madruga Dias JA et al.

Seminars in Arthritis and Rheumatism, 2014

A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy.

Zhang Z et al.

Gene, 2013

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

Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing.

Busch J et al.

The Journal of Investigative Dermatology, 2012

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis.

Sasaki T et al.

Journal of Dermatological Science, 2012

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

Zhang Z et al.

American Journal of Human Genetics, 2012

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

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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."