Variant: rs121918443 

    present in Gene: ABCB4
    present in Chromosome: 7
    Position on Chromosome: 87443686
    Alleles of this Variant: A/G

rs121918443 in ABCB4 gene and Cholestasis, progressive familial intrahepatic 3 PMID 24594635 2015 Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.

PMID 24045840 2014 Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.

PMID 17726488 2007 Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

PMID 24806754 2014 Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.

PMID 11313315 2001 The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.

PMID 28012258 2017 Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).

PMID 12671900 2003 A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.

PMID 21119540 2011 Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.

PMID 9419367 1998 Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.