Varaico: Literature-Extracted Genetic Variants

Gene:PRKRA
Variant:p.T34S
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PRKRA

NM_003690.5:p.T34S

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

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

Vaughn LS et al.

The Journal of Biological Chemistry, 2015

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

Zech M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2014

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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."