Variant: rs121434410 

    present in Gene: PRKRA;CHROMR
    present in Chromosome: 2
    Position on Chromosome: 178436264
    Alleles of this Variant: G/A

rs121434410 in PRKRA;CHROMR gene and DYSTONIA 16 (disorder) PMID 26990861 2016 PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.

PMID 25142429 2014 DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.

PMID 18243799 2008 DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.

PMID 18420150 2008 A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.

PMID 26231208 2015 Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.