Variant: rs104894458 

    present in Gene: NPC2
    present in Chromosome: 14
    Position on Chromosome: 74484420
    Alleles of this Variant: G/A

rs104894458 in NPC2 gene and NIEMANN-PICK DISEASE, TYPE C2 PMID 12955717 2003 Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

PMID 16126423 2006 Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

PMID 12447927 2002 Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.

PMID 18772377 2008 NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes.

PMID 11125141 2000 Identification of HE1 as the second gene of Niemann-Pick C disease.

PMID 11567215 2001 Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

PMID 15937921 2005 Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.