Varaico: Literature-Extracted Genetic Variants

Gene:PRKRA
Variant:p.C77S
Back to variants list

PRKRA

NM_003690.5:p.C77S

Associated Papers

Dystonia 16 (DYT16) mutations in PACT cause dysregulated PKR activation and eIF2α signaling leading to a compromised stress response.

Burnett SB et al.

Neurobiology of Disease, 2020

A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.

Burnett SB et al.

Journal of Cellular Biochemistry, 2019

Novel compound heterozygous mutations in PRKRA cause pure dystonia.

de Carvalho Aguiar P et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Zech M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."