Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.S445L
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SDHA

NM_004168.4:p.S445L

Associated Papers

Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.

Ősz F et al.

Antioxidants (basel, Switzerland), 2025

SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.

Kaplan AI et al.

Endocrine-related Cancer, 2024

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants

Performances of Functional and Anatomic Imaging Modalities in Succinate Dehydrogenase A-Related Metastatic Pheochromocytoma and Paraganglioma.

Patel M et al.

Cancers, 2022

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

Ma X et al.

Frontiers in Endocrinology, 2020

Clinical significance and peculiarities of succinate dehydrogenase B and hypoxia inducible factor 1α expression in parasympathetic versus sympathetic paragangliomas.

Bernardo-Castiñeira C et al.

Head & Neck, 2019

Germline SDHA mutations in children and adults with cancer.

Dubard Gault M et al.

Cold Spring Harbor Molecular Case Studies, 2018

Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).

Maniam P et al.

Journal of the Endocrine Society, 2018

29978154 (PubMed )
Supplement: js.2018-00120.sd1.docx

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

Bausch B et al.

Jama Oncology, 2017

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Casey RT et al.

Molecular Genetics & Genomic Medicine, 2017

Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

Miettinen M et al.

The International Journal of Biochemistry & Cell Biology, 2014

An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).

Nannini M et al.

Journal of Medical Genetics, 2013

Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

Miettinen M et al.

The American Journal of Surgical Pathology, 2013

Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors.

Belinsky MG et al.

Frontiers in Oncology, 2013

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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."