Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA
Variant:p.H295R
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PRKACA

NM_002730.4:p.H295R

Associated Papers

Rare correlation of somatic PRKACA mutations with pregnancy-associated aldosterone- and cortisol-producing adenomas: a case report and literature review.

Lin J et al.

Bmc Endocrine Disorders, 2024

Discovery of a Cushing's syndrome protein kinase A mutant that biases signaling through type I AKAPs.

Omar MH et al.

Science Advances, 2024

Classification of Cushing's syndrome PKAc mutants based upon their ability to bind PKI.

Omar MH et al.

The Biochemical Journal, 2023

Mislocalization of protein kinase A drives pathology in Cushing's syndrome.

Omar MH et al.

Cell Reports, 2022

Genotype-specific cortisol production associated with Cushing's syndrome adenoma with PRKACA mutations.

Baba R et al.

Molecular and Cellular Endocrinology, 2021

Clinical and Molecular Characteristics of PRKACA L206R Mutant Cortisol-Producing Adenomas in Korean Patients.

Jang I et al.

Endocrinology and Metabolism (seoul, Korea), 2021

Molecular Mechanisms of Functional Adrenocortical Adenoma and Carcinoma: Genetic Characterization and Intracellular Signaling Pathway.

Shimada H et al.

Biomedicines, 2021

PKA Cα subunit mutation triggers caspase-dependent RIIβ subunit degradation via Ser114 phosphorylation.

Weigand I et al.

Science Advances, 2021

Pathogenesis and treatment of primary aldosteronism.

Zennaro MC et al.

Nature Reviews. Endocrinology, 2020

Timeline of Advances in Genetics of Primary Aldosteronism.

Meyer LS et al.

Experientia Supplementum (2012), 2019

Genetics of tumors of the adrenal cortex.

Bonnet-Serrano F et al.

Endocrine-related Cancer, 2018

Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing's syndrome.

Lecoq AL et al.

Jci Insight, 2017

PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease.

Bram Z et al.

Jci Insight, 2016

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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."