Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.Q28*
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PRKAR1A

NM_002734.5:p.Q28*

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

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome.

Martinerie L et al.

Annales D'endocrinologie, 2024

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

MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene.

Bouys L et al.

European Journal of Endocrinology, 2021

Carney Complex.

Kamilaris CDC et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2019

Carney complex with PRKAR1A gene mutation: A case report and literature review.

Liu Q et al.

Medicine, 2017

Carney complex: an update.

Correa R et al.

European Journal of Endocrinology, 2015

Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome.

Hofland J et al.

European Journal of Endocrinology, 2013

Carney complex and other conditions associated with micronodular adrenal hyperplasias.

Almeida MQ et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

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

Edgetic perturbation models of human inherited disorders.

Zhong Q et al.

Molecular Systems Biology, 2009

19888216 (PubMed )
Supplement: msb200980-s1.pdf
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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."