Varaico: Literature-Extracted Genetic Variants

Gene:SLCO2A1
Variant:p.E427_P430del0
Back to variants list

SLCO2A1

NM_005630.3:p.E427_P430del0

Associated Papers

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

Mohammad M et al.

Cureus, 2025

Lack of cutis verticis gyrata is associated with c.1279_1290del12 of SLCO2A1 in 43 Japanese patients with pachydermoperiostosis.

Niizeki H et al.

Journal of Dermatological Science, 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

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

35611666 (PubMed )
Supplement: gnl-16-6-942-supple.pdf

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

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

Nakazawa S et al.

The Journal of Dermatology, 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

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

Minakawa S 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

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

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

Chronic Enteropathy Associated with SLCO2A1 Gene.

Umeno J et al.

Inflammatory Intestinal Diseases, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."