Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA
Variant:p.S213R
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PRKACA

NM_002730.4:p.S213R

Associated Papers

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

Cortisol-producing adenoma-related somatic mutations in unilateral primary aldosteronism with concurrent autonomous cortisol secretion: their prevalence and clinical characteristics.

Wu WC et al.

European Journal of Endocrinology, 2022

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

Somatic PRKACA Mutations: Association With Transition From Pituitary-Dependent to Adrenal-Dependent Cushing Syndrome.

Di Dalmazi G et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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

Bathon K et al.

Endocrinology, 2019

Genetics of tumors of the adrenal cortex.

Bonnet-Serrano F et al.

Endocrine-related Cancer, 2018

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."