Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA
Variant:p.L199_C200ins0
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PRKACA

NM_002730.4:p.L199_C200ins0

Associated Papers

ccfDNA analysis for the classification of adrenocortical adenomas.

Xu M et al.

Journal of Endocrinological Investigation, 2025

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

Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis.

McGlacken-Byrne SM et al.

European Journal of Endocrinology, 2022

Genetics of tumors of the adrenal cortex.

Bonnet-Serrano F et al.

Endocrine-related Cancer, 2018

Clinical characteristics of PRKACA mutations in Chinese patients with adrenal lesions: a single-centre study.

Li X et al.

Clinical Endocrinology, 2016

Protein kinase A defects and cortisol-producing adrenal tumors.

Zilbermint M et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2015

PRKACA: the catalytic subunit of protein kinase A and adrenocortical tumors.

Berthon AS et al.

Frontiers in Cell and Developmental Biology, 2015

Novel somatic mutations in the catalytic subunit of the protein kinase A as a cause of adrenal Cushing's syndrome: a European multicentric study.

Di Dalmazi G et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."