Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.S199delFs
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PRKAR1A

NM_002734.5:p.S199delFs

Associated Papers

A Case of Myxoid Malignant Peripheral Nerve Sheath Tumor in a Patient With Carney Complex.

Kobayashi K et al.

Case Reports in Pathology, 2025

Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review.

Wang H et al.

Frontiers in Endocrinology, 2022

Cyclic-AMP-dependent protein kinase A regulates apoptosis by stabilizing the BH3-only protein Bim.

Moujalled D et al.

Embo Reports, 2011

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

In silico identification of new genetic variations as potential risk factors for Alzheimer's disease in a microarray-oriented simulation.

Lemos RR et al.

Journal of Molecular Neuroscience : Mn, 2009

Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A.

Sasaki A et al.

Molecular Genetics and Metabolism, 2008

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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."