Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA
Variant:p.E32V
Back to variants list

PRKACA

NM_002730.4:p.E32V

Associated Papers

Molecular characterization of archival adrenal tumor tissue from patients with ACTH-independent Cushing syndrome.

Rege J et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2025

A Rare Case of PRKACA Duplication-Associated Childhood-Onset Primary Pigmented Nodular Adrenocortical Disease.

Ravi Kumar P et al.

Jcem Case Reports, 2025

Characterisation of a GNAS variant linked to cortisol-producing adrenocortical adenoma.

Jamaluddin A et al.

Endocrine Oncology (bristol, England), 2025

The molecular genetics of adrenal cushing.

Vaduva P et al.

Hormones (athens, Greece), 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

Alterations in Protein Kinase A Substrate Specificity as a Potential Cause of Cushing Syndrome.

Bathon K et al.

Endocrinology, 2019

Microinsertions in PRKACA cause activation of the protein kinase A pathway in cardiac myxoma.

Tseng IC et al.

The Journal of Pathology, 2017

Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation.

Ronchi CL et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."