Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B3
Variant:p.R181H
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SLCO1B3

NM_019844.4:p.R181H

Associated Papers

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

Liu Y et al.

Bmc Oral Health, 2024

38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM2_ESM.xls › Supplementary_Table_1

Effect of rare coding variants of charged amino acid residues on the function of human organic anion transporting polypeptide 1B3 (SLCO1B3).

Liu S et al.

Biochemical and Biophysical Research Communications, 2021

Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.

Sheffield BS et al.

Plos One, 2015

25798586 (PubMed )
Supplement: pone.0119689.s004.xlsx › Pericolic_SNVs_and_indels

Several conserved positively charged amino acids in OATP1B1 are involved in binding or translocation of different substrates.

Weaver YM et al.

The Journal of Membrane Biology, 2010

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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."