Variant: rs121917899 

    present in Gene: PQBP1
    present in Chromosome: X
    Position on Chromosome: 48901944
    Alleles of this Variant: A/G

rs121917899 in PQBP1 gene and Renpenning syndrome 1 PMID 21315190 2011 A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

PMID 23512658 2013 PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.

PMID 16740914 2006 Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.

PMID 26046437 2015 PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1.

PMID 20410308 2010 Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.

PMID 14634649 2003 Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.