Varaico: Literature-Extracted Genetic Variants

Gene:SLC10A1
Variant:p.S267F
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SLC10A1

NM_003049.4:p.S267F

Associated Papers

Gene Editing of Pluripotent Stem Cell-Derived Hepatic Cells for Liver Disease Modeling and Therapeutic Development.

Lim D et al.

Biomolecules & Therapeutics, 2026

Structural mapping of NTCP distinguishes its dual functionality as a hepatitis B virus receptor and bile acid transporter.

Matsuzawa K et al.

Plos Pathogens, 2026

[Clinical and genetic characteristics of 14 children with sodium taurocholate co-transporting polypeptide deficiency].

Ma RX et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2025

Genetic Determinants of Leisure-Time Physical Activity in the Taiwanese Population: A Genome-Wide Association Study.

Hsu LA et al.

Medicine and Science in Sports and Exercise, 2025

Amino acid substitutions at rheostat positions in the Na+/taurocholate cotransporting polypeptide substrate channel have pleiotropic effects.

Swint-Kruse L et al.

Protein Science : a Publication of the Protein Society, 2025

Protective Role of the Sodium Taurocholate Cotransporting Polypeptide S267F Variant Against Hepatitis B Virus Infection and Cirrhosis in the Vietnamese Population.

Huy PX et al.

Journal of Medical Virology, 2025

Genomic sequencing as a key primary recommendation for neonatal hyperbilirubinemia: a population-based multicenter study.

Huang D et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Genetic study of intrahepatic cholestasis of pregnancy in Chinese women unveils East Asian etiology linked to historic HBV epidemic.

Liu Y et al.

Journal of Hepatology, 2025

Contrastive sequence signatures between the both sides of a recombination spot reveal an adaptation at PPARD locus from standing variation for pleiotropy since out-of-Africa dispersal.

Shou W et al.

Bmc Genomics, 2025

40307732 (PubMed )
Supplement: 12864_2025_11620_MOESM2_ESM.xlsx › TS4

Genetic mapping of serum metabolome to chronic diseases among Han Chinese.

Cheng C et al.

Cell Genomics, 2025

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

Familial NTCPD presenting with persistent hypercholanemia and co-existing with a series of novel heterozygous mutations.

Wang M et al.

Clinics and Research in Hepatology and Gastroenterology, 2024

Population genetic admixture and evolutionary history in the Shandong Peninsula inferred from integrative modern and ancient genomic resources.

Su H et al.

Bmc Genomics, 2024

SLC10A1 rs2296651 variant (S267F mutation) predicts biochemical traits, hepatitis B virus infection susceptibility and the risk of gallstone disease.

Ko YL et al.

Molecular Genetics and Genomics : Mgg, 2024

Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation.

Xu ZM et al.

American Journal of Human Genetics, 2024

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

Lu X et al.

Biophysical Journal, 2024

Neonatal jaundice caused by compound mutations of SLC10A1 and a novel UGT1A1 gene.

Wang M et al.

Clinics and Research in Hepatology and Gastroenterology, 2024

Sodium taurocholate cotransporter polypeptide deficiency from two pairs of twins with homozygous and heterozygous of p.Ser267Phe variant, respectively: Case report.

Wang M et al.

Clinics and Research in Hepatology and Gastroenterology, 2024

The Born in Guangzhou Cohort Study enables generational genetic discoveries.

Huang S et al.

Nature, 2024

When the same treatment has different response: The role of pharmacogenomics in statin therapy.

Zheng E et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2024

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China.

Lai G et al.

Frontiers in Pediatrics, 2024

39439447 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.

Zhang T et al.

Peerj, 2024

39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT

Analysis across Taiwan Biobank, Biobank Japan, and UK Biobank identifies hundreds of novel loci for 36 quantitative traits.

Chen CY et al.

Cell Genomics, 2023

Identification of a bile acid and bile salt metabolism-related lncRNA signature for predicting prognosis and treatment response in hepatocellular carcinoma.

Cui H et al.

Scientific Reports, 2023

Organic Anion Transporting Polypeptide (OATP) 1B3 is a Significant Transporter for Hepatic Uptake of Conjugated Bile Acids in Humans.

Pan Q et al.

Cellular and Molecular Gastroenterology and Hepatology, 2023

Role of Hepatocyte Transporters in Drug-Induced Liver Injury (DILI)-In Vitro Testing.

Tátrai P et al.

Pharmaceutics, 2022

Thyroid Hormone Transporters in Pregnancy and Fetal Development.

Chen Z et al.

International Journal of Molecular Sciences, 2022

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

Qin T et al.

Biochimica Et Biophysica Acta. General Subjects, 2022

The S267F variant of sodium taurocholate co-transporting polypeptide is strongly associated with resistance to chronic hepatitis B and high level of serum total bile acids.

Huang J et al.

Liver Research (beijing, China), 2022

Hepatic Expression of the Na+-Taurocholate Cotransporting Polypeptide Is Independent from Genetic Variation.

Tremmel R et al.

International Journal of Molecular Sciences, 2022

Tyrosine 146 of the Human Na+/Taurocholate Cotransporting Polypeptide (NTCP) Is Essential for Its Hepatitis B Virus (HBV) Receptor Function and HBV Entry into Hepatocytes.

Zakrzewicz D et al.

Viruses, 2022

Structural basis of sodium-dependent bile salt uptake into the liver.

Goutam K et al.

Nature, 2022

Structure of the bile acid transporter and HBV receptor NTCP.

Asami J et al.

Nature, 2022

Structural insights into the HBV receptor and bile acid transporter NTCP.

Park JH et al.

Nature, 2022

Impacts of SNPs on adverse events and trough concentration of imatinib in patients with gastrointestinal stromal tumors.

Maekawa K et al.

Drug Metabolism and Pharmacokinetics, 2022

Structural Plasticity Is a Feature of Rheostat Positions in the Human Na+/Taurocholate Cotransporting Polypeptide (NTCP).

Ruggiero MJ et al.

International Journal of Molecular Sciences, 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

NTCP Deficiency Affects the Levels of Circulating Bile Acids and Induces Osteoporosis.

Yang F et al.

Frontiers in Endocrinology, 2022

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.

Liu X et al.

Frontiers in Genetics, 2022

36046230 (PubMed )
Supplement: Table3.XLSX › Sheet1

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.

Zhang W et al.

Frontiers in Pediatrics, 2022

36507129 (PubMed )
Supplement: Table1.xlsx › Supplemental_Table

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

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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."