Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.R451H
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SDHA

NM_004168.4:p.R451H

Associated Papers

A Novel Human SDHA-Knockout Cell Line Model for the Functional Analysis of Clinically Relevant SDHA Variants.

Kent JD et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Exploring Aerobic Energy Metabolism in Breast Cancer: A Mutational Profile of Glycolysis and Oxidative Phosphorylation.

Oliveira RC et al.

International Journal of Molecular Sciences, 2024

39684297 (PubMed )
Supplement: ijms-25-12585-s001.zip › ijms-3295327-supplementary.xlsx › Supplementary_Table_S4

Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.

Cardot-Bauters C et al.

Annales D'endocrinologie, 2024

Serum Succinate/Fumarate Ratio in Patients With Paraganglioma/Pheochromocytoma Attending an Endocrine Oncogenetic Unit.

Bancel LP et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Villani A et al.

Nature Cancer, 2023

36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S6_-_Category_D_variants

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

Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy.

Nguyen TV et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2021

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

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

Casey RT et al.

Molecular Genetics & Genomic Medicine, 2017

28546994 (PubMed )
Supplement: MGG3-5-237-s001.docx
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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."