Varaico: Literature-Extracted Genetic Variants

Gene:SLCO2A1
Variant:p.E427K
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SLCO2A1

NM_005630.3:p.E427K

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

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

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

Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis.

Huang H et al.

Scientific Reports, 2017

28851954 (PubMed )
Supplement: 41598_2017_9671_MOESM1_ESM.pdf

Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention.

Li SS et al.

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

The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype.

Niizeki H et al.

The British Journal of Dermatology, 2014

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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."