Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.V114delFs
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PRKAR1A

NM_002734.5:p.V114delFs

Associated Papers

Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature.

Chatzikonstantinou S et al.

The International Journal of Neuroscience, 2022

Somatic PRKAR1A Gene Mutation in a Nonsyndromic Metastatic Large Cell Calcifying Sertoli Cell Tumor.

Tatsi C et al.

Journal of the Endocrine Society, 2019

The regulatory 1α subunit of protein kinase A modulates renal cystogenesis.

Ye H et al.

American Journal of Physiology. Renal Physiology, 2017

Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients.

Lowe KM et al.

The American Journal of Surgical Pathology, 2017

Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented.

Briassoulis G et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 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

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.

Bertherat J et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."