Varaico: Literature-Extracted Genetic Variants

Gene:MAX
Variant:p.R75*
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MAX

NM_002382.5:p.R75*

Associated Papers

Multiple Endocrine Neoplasia Type 5 due to Germline MAX Mutations: A Systematic Review of Tumor Spectrum and Clinical Features.

Charoenngam N et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2025

Pathogenic MAX Variant in Bilateral Adrenal Paragangliomas: The Dilemma of Cortical-Sparing Surgery.

Carmona Alexandrino H et al.

Cureus, 2025

Clinicopathological and genomic analysis of pediatric pheochromocytoma and sympathetic paraganglioma.

Kimura N et al.

Endocrine Journal, 2025

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.

Balinisteanu I et al.

Current Issues in Molecular Biology, 2024

Genotype and clinical phenotype characteristics of MAX germline mutation-associated pheochromocytoma/paraganglioma syndrome.

Lian B et al.

Frontiers in Endocrinology, 2024

Primary Hyperparathyroidism in a Patient With Bilateral Pheochromocytoma and a Mutation in the Tumor Suppressor MAX.

Charoenngam N et al.

Jcem Case Reports, 2023

Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.

Loughrey PB et al.

Endocrine-related Cancer, 2022

Bilateral Pheochromocytoma with Germline MAX Variant without Family History.

Hata S et al.

Clinics and Practice, 2022

35645312 (PubMed )
Supplement: clinpract-12-00035-s001.zip › clinpract-1702561-supplementary.pdf

Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?

Seabrook AJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report.

Mamedova E et al.

Frontiers in Endocrinology, 2021

MAX Mutations in Endometrial Cancer: Clinicopathologic Associations and Recurrent MAX p.His28Arg Functional Characterization.

Walker CJ et al.

Journal of the National Cancer Institute, 2018

Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.

Roberti A et al.

Nature Communications, 2016

27600764 (PubMed )
Supplement: ncomms12602-s2.xlsx › Supplementary_Data_2

Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.

Pęczkowska M et al.

Clinical Endocrinology, 2013

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

Burnichon N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

Comino-Méndez I et al.

Nature Genetics, 2011

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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."