Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.R16*
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PRKAR1A

NM_002734.5:p.R16*

Associated Papers

Adrenal Cushing Syndrome: Diagnosis and Management in a 10-Year-Old Boy with Carney Complex.

Corica D et al.

Hormone Research in Paediatrics, 2025

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

Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma.

Mellid S et al.

Frontiers in Endocrinology, 2022

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Ziats MN et al.

Pediatric Research, 2020

31618753 (PubMed )
Supplement: NIHMS1541080-supplement-Supp_Tables_1-2.xlsx › Supp_Table_1

Failure to Thrive in the Context of Carney Complex.

Tirosh A et al.

Hormone Research in Paediatrics, 2018

An unusual presentation of Carney complex with diffuse primary pigmented nodular adrenocortical disease on one adrenal gland and a nonpigmented adrenocortical adenoma and focal primary pigmented nodular adrenocortical disease on the other.

Tung SC et al.

Endocrine Journal, 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."