Varaico: Literature-Extracted Genetic Variants

Gene:SLC10A2
Variant:p.V98I
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SLC10A2

NM_000452.3:p.V98I

Associated Papers

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

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

SLC10A2 deficiency-induced congenital chronic bile acid diarrhea and stunting.

Qie D et al.

Molecular Genetics & Genomic Medicine, 2021

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

Ferkingstad E et al.

Nature Communications, 2018

Functional characterization of genetic variants in the apical sodium-dependent bile acid transporter (ASBT; SLC10A2).

Ho RH et al.

Journal of Gastroenterology and Hepatology, 2011

Role of the intestinal bile acid transporters in bile acid and drug disposition.

Dawson PA

Handbook of Experimental Pharmacology, 2011

A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.

Renner O et al.

Plos One, 2009

Analysis of the ileal bile acid transporter gene, SLC10A2, in subjects with familial hypertriglyceridemia.

Love MW et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2001

Absence of dysfunctional ileal sodium-bile acid cotransporter gene mutations in patients with adult-onset idiopathic bile acid malabsorption.

Montagnani M et al.

Scandinavian Journal of Gastroenterology, 2001

The solute carrier family 10 (SLC10): beyond bile acid transport.

Claro da Silva T et al.

Molecular Aspects of Medicine, 0

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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."