Varaico: Literature-Extracted Genetic Variants

Gene:SLC10A1
Variant:p.R249W
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SLC10A1

NM_003049.4:p.R249W

Associated Papers

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

Lu X et al.

Biophysical Journal, 2024

The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.

Cheema HA et al.

Jpma. the Journal of the Pakistan Medical Association, 2023

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

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

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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."