Varaico: Literature-Extracted Genetic Variants

Gene:NR1H4
Variant:p.T296I
Back to variants list

NR1H4

NM_001206979.2:p.T296I

Associated Papers

A farnesoid X receptor T296I variant disrupts ligand-induced FXR activation and thus bile acid transport in progressive familial intrahepatic cholestasis.

Behrendt A et al.

The Journal of Biological Chemistry, 2025

Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: Presentation of a case series and literature review.

Pfister ED et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."