Varaico: Literature-Extracted Genetic Variants

Gene:PRKRA
Variant:p.S130P
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PRKRA

NM_003690.5:p.S130P

Associated Papers

Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA.

Burnett SB et al.

Disease Models & Mechanisms, 2024

A frameshift mutation in the murine Prkra gene causes dystonia and exhibits abnormal cerebellar development and reduced eIF2α phosphorylation.

Burnett SB et al.

Biorxiv : the Preprint Server for Biology, 2024

The protein activator of protein kinase R, PACT/RAX, negatively regulates protein kinase R during mouse anterior pituitary development.

Dickerman BK et al.

The Febs Journal, 2015

Edgotype: a fundamental link between genotype and phenotype.

Sahni N et al.

Current Opinion in Genetics & Development, 2013

Missense mutation in the second RNA binding domain reveals a role for Prkra (PACT/RAX) during skull development.

Dickerman BK et al.

Plos One, 2011

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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."