Variant: rs139829189 

    present in Gene: VPS33B
    present in Chromosome: 15
    Position on Chromosome: 91006702
    Alleles of this Variant: G/A

rs139829189 in VPS33B gene and Arthrogryposis, renal dysfunction, and cholestasis 1 PMID 15052268 2004 Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

PMID 20190753 2010 Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

PMID 22753090 2012 Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

PMID 18853461 2009 Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

PMID 23918659 2013 Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.