Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.A454E
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SDHA

NM_004168.4:p.A454E

Associated Papers

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

Somatic SDHA mutations in paragangliomas in siblings: Case report of 2 cases.

Huang YC et al.

Medicine, 2020

Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.

Klek S et al.

Jnci Cancer Spectrum, 2020

Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma.

Jha A et al.

Frontiers in Oncology, 2019

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

Biochemical, Molecular, and Clinical Characterization of Succinate Dehydrogenase Subunit A Variants of Unknown Significance.

Bannon AE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

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

Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.

Evenepoel L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

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."