Varaico: Literature-Extracted Genetic Variants

Gene:MAX
Variant:p.R33*
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MAX

NM_002382.5:p.R33*

Associated Papers

Histological Evidence of familial GH-PitNET Associated with Germline MAX Mutation.

Salle L et al.

European Journal of Endocrinology, 2026

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

Loss of heterozygosity and absence of MAX immunostaining in a prolactinoma associated with multiple endocrine neoplasia type 5 (MEN5).

Delemer B et al.

Pituitary, 2025

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

Lian B et al.

Frontiers in Endocrinology, 2024

Potential Targeted Therapies in Ovarian Cancer.

Sisman Y et al.

Pharmaceuticals (basel, Switzerland), 2022

36355495 (PubMed )
Supplement: pharmaceuticals-15-01324-s001.zip › Supplementary_material_Table_S3_.pdf

IgE type multiple myeloma exhibits hypermutated phenotype and tumor reactive T cells.

Kehl N et al.

Journal for Immunotherapy of Cancer, 2022

36252999 (PubMed )
Supplement: jitc-2022-005815supp004.xlsx › snvs

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

Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variant.

Duarte DB et al.

Frontiers in Endocrinology, 2021

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

A Novel Phenotype of Germline Pathogenic Variants in MAX: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review.

Chang X et al.

Frontiers in Endocrinology, 2020

Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Ma X et al.

Frontiers in Endocrinology, 2020

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Whitworth J et al.

American Journal of Human Genetics, 2018

Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma.

Urbini M et al.

International Journal of Genomics, 2018

Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation.

Romanet P et al.

Endocrine Pathology, 2017

MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation.

Schaefer IM et al.

Nature Communications, 2017

Functional and in silico assessment of MAX variants of unknown significance.

Comino-Méndez I et al.

Journal of Molecular Medicine (berlin, Germany), 2015

Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma.

Galan SR et al.

Clinical Endocrinology, 2013

Mitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers.

Rapizzi E et al.

Endocrine-related Cancer, 2012

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."