Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A1
Variant:p.V332G
Back to variants list

ATP1A1

NM_000701.8:p.V332G

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Adrenal histologic and genetic characteristics of primary aldosteronism in late adulthood.

Blinder AR et al.

European Journal of Endocrinology, 2026

Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.

Nanba K et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Genetic Alterations in Benign Adrenal Tumors.

Pitsava G et al.

Biomedicines, 2022

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Progress on Genetic Basis of Primary Aldosteronism.

Karwacka I et al.

Biomedicines, 2021

ATP1A1 Mutant in Aldosterone-Producing Adenoma Leads to Cell Proliferation.

Kobuke K et al.

International Journal of Molecular Sciences, 2021

Novel Mutations Detection with Next-Generation Sequencing and Its Association with Clinical Outcome in Unilateral Primary Aldosteronism.

Wu CH et al.

Biomedicines, 2021

34572353 (PubMed )
Supplement: biomedicines-09-01167-s001.zip › biomedicines-1321403-supplementary.pdf

Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.

Biondo ED et al.

American Journal of Physiology. Cell Physiology, 2021

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

Shimada H et al.

Biomedicines, 2021

Unravelling the Genetic Basis of Primary Aldosteronism.

Mourtzi N et al.

Nutrients, 2021

Functional Characteristic and Significance of Aldosterone-Producing Cell Clusters in Primary Aldosteronism and Age-Related Hypertension.

Pauzi FA et al.

Frontiers in Endocrinology, 2021

Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.

Nanba K et al.

Frontiers in Endocrinology, 2021

Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome.

Vaduva P et al.

Journal of the Endocrine Society, 2020

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.

Stregapede F et al.

Clinical Genetics, 2020

Molecular mechanisms in primary aldosteronism

De Sousa K et al.

Journal of Molecular Endocrinology, 2019

RNA Sequencing Provides Novel Insights into the Transcriptome of Aldosterone Producing Adenomas.

Backman S et al.

Scientific Reports, 2019

Na/K Pump Mutations Associated with Primary Hyperaldosteronism Cause Loss of Function.

Meyer DJ et al.

Biochemistry, 2019

Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks.

Nanba K et al.

Hypertension (dallas, Tex. : 1979), 2019

Understanding the impacts of missense mutations on structures and functions of human cancer-related genes: A preliminary computational analysis of the COSMIC Cancer Gene Census.

Malhotra S et al.

Plos One, 2019

Timeline of Advances in Genetics of Primary Aldosteronism.

Meyer LS et al.

Experientia Supplementum (2012), 2019

Targeted Molecular Characterization of Aldosterone-Producing Adenomas in White Americans.

Nanba K et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Genetic Causes of Functional Adrenocortical Adenomas.

Zennaro MC et al.

Endocrine Reviews, 2017

Mouse Models of Primary Aldosteronism: From Physiology to Pathophysiology.

Aragao-Santiago L et al.

Endocrinology, 2017

On the effect of hyperaldosteronism-inducing mutations in Na/K pumps.

Meyer DJ et al.

The Journal of General Physiology, 2017

Of channels and pumps: different ways to boost the aldosterone?

Bandulik S

Acta Physiologica (oxford, England), 2017

Somatic and inherited mutations in primary aldosteronism.

Fernandes-Rosa FL et al.

Journal of Molecular Endocrinology, 2017

Expression of inflammation-related genes in aldosterone-producing adenomas with KCNJ5 mutation.

Murakami M et al.

Biochemical and Biophysical Research Communications, 2016

The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.

Pagan M et al.

Bmc Bioinformatics, 2016

26818556 (PubMed )
Supplement: 12859_2015_849_MOESM3_ESM.pdf

Pathogenesis of Adrenal Aldosterone-Producing Adenomas Carrying Mutations of the Na(+)/K(+)-ATPase.

Stindl J et al.

Endocrinology, 2015

Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma.

Fernandes-Rosa FL et al.

Hypertension (dallas, Tex. : 1979), 2015

Somatic mutations of the ATP1A1 gene and aldosterone-producing adenomas.

Gomez-Sanchez CE et al.

Molecular and Cellular Endocrinology, 2015

Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.

Monticone S et al.

Molecular and Cellular Endocrinology, 2015

Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.

Williams TA et al.

Hypertension (dallas, Tex. : 1979), 2014

Overview of the genetic determinants of primary aldosteronism.

Al-Salameh A et al.

The Application of Clinical Genetics, 2014

Genetics of mineralocorticoid excess: an update for clinicians.

Zennaro MC et al.

European Journal of Endocrinology, 2013

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.

Beuschlein F et al.

Nature Genetics, 2013

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."