Varaico: Literature-Extracted Genetic Variants

Gene:SLC10A1
Variant:p.I88T
Back to variants list

SLC10A1

NM_003049.4:p.I88T

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Molecular mechanisms of Na+-driven bile acid transport in human NTCP.

Lu X et al.

Biophysical Journal, 2024

Oligomerization of the HBV/HDV functional receptor NTCP expressed in Sf9 insect cell.

Qin T et al.

Biochimica Et Biophysica Acta. General Subjects, 2022

Sodium taurocholate co-transporting polypeptide deficiency.

Schneider AL et al.

Clinics and Research in Hepatology and Gastroenterology, 2022

Molecular Epidemiology of Na+-Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causative Gene SLC10A1.

Li H et al.

Frontiers in Genetics, 2022

De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report.

Liu HY et al.

World Journal of Clinical Cases, 2021

Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis.

Deng LJ et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2021

Clinical features of sodium-taurocholate cotransporting polypeptide deficiency in pediatric patients: case series and literature review.

Zou TT et al.

Translational Pediatrics, 2021

Abnormal Bilirubin Metabolism in Patients With Sodium Taurocholate Cotransporting Polypeptide Deficiency.

Yan YY et al.

Journal of Pediatric Gastroenterology and Nutrition, 2020

In Vitro Functional Characterization and in Silico Prediction of Rare Genetic Variation in the Bile Acid and Drug Transporter, Na+-Taurocholate Cotransporting Polypeptide (NTCP, SLC10A1).

Russell LE et al.

Molecular Pharmaceutics, 2020

Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg).

Li H et al.

Molecular Medicine Reports, 2019

Intrahepatic Cholestasis of Pregnancy as a Clinical Manifestation of Sodium-Taurocholate Cotransporting Polypeptide Deficiency.

Chen R et al.

The Tohoku Journal of Experimental Medicine, 2019

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia.

Qiu JW et al.

Oncotarget, 2017

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

Liu R et al.

Scientific Reports, 2017

28835676 (PubMed )
Supplement: 41598_2017_7012_MOESM1_ESM.doc

Loss of organic anion transporting polypeptide 1B3 function causes marked delay in indocyanine green clearance without any clinical symptoms.

Kagawa T et al.

Hepatology (baltimore, Md.), 2017

The p.Ser267Phe variant in SLC10A1 is associated with resistance to chronic hepatitis B.

Peng L et al.

Hepatology (baltimore, Md.), 2015

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."