Varaico: Literature-Extracted Genetic Variants

Gene:SLC10A2
Variant:p.L243P
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SLC10A2

NM_000452.3:p.L243P

Associated Papers

Homozygosity for a variant in SLC10A2 and infancy onset severe fat-soluble vitamin deficiency due to bile acid malabsorption.

Rungoe C et al.

Jpgn Reports, 2025

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

Qie D et al.

Molecular Genetics & Genomic Medicine, 2021

Importance of uncharged polar residues and proline in the proximal two-thirds (Pro107-Ser128) of the highly conserved region of mouse ileal Na+-dependent bile acid transporter, Slc10a2, in transport activity and cellular expression.

Saeki T et al.

Bmc Physiology, 2013

Genetic polymorphisms in Na+-taurocholate co-transporting polypeptide (NTCP) and ileal apical sodium-dependent bile acid transporter (ASBT) and ethnic comparisons of functional variants of NTCP among Asian populations.

Pan W et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 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

Mutational analysis of uncharged polar residues and proline in the distal one-third (Thr130-Pro142) of the highly conserved region of mouse Slc10a2.

Saeki T et al.

Bioscience, Biotechnology, and Biochemistry, 2009

Mutation screening of apical sodium-dependent bile acid transporter (SLC10A2): novel haplotype block including six newly identified variants linked to reduced expression.

Renner O et al.

Human Genetics, 2009

An association between genetic polymorphisms in the ileal sodium-dependent bile acid transporter gene and the risk of colorectal adenomas.

Wang W et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2001

Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).

Oelkers P et al.

The Journal of Clinical Investigation, 1997

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."