Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.V381_*382delFs
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PRKAR1A

NM_002734.5:p.V381_*382delFs

Associated Papers

Carney complex: an update.

Correa R et al.

European Journal of Endocrinology, 2015

In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex.

Patronas Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

Horvath A et al.

Human Mutation, 2010

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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."