Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.I282_V283insFs
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PRKAR1A

NM_002734.5:p.I282_V283insFs

Associated Papers

The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.

Sun J et al.

Frontiers in Endocrinology, 2024

Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.

Libé R et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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

Heterogeneity of skin manifestations in patients with Carney complex.

Mateus C et al.

Journal of the American Academy of Dermatology, 2008

Wnt/beta-catenin and 3',5'-cyclic adenosine 5'-monophosphate/protein kinase A signaling pathways alterations and somatic beta-catenin gene mutations in the progression of adrenocortical tumors.

Gaujoux S et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

PRKAR1A mutations in primary pigmented nodular adrenocortical disease.

Cazabat L et al.

Pituitary, 2006

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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."