Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.Y61*
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SDHB

NM_003000.3:p.Y61*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.

Ambulkar KS et al.

Endocrine Connections, 2025

40981001 (PubMed )
Supplement: supplementary_materials.pdf

Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.

Flynn A et al.

Nature Communications, 2025

40097403 (PubMed )
Supplement: 41467_2025_57595_MOESM3_ESM.xlsx › Supplementary_Data_1

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

Cardot-Bauters C et al.

Annales D'endocrinologie, 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 › Truncating_Variants

Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Yonamine M et al.

Cancers, 2021

Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2020

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Gieldon L et al.

Cancers, 2019

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Alternative assembly of respiratory complex II connects energy stress to metabolic checkpoints.

Bezawork-Geleta A et al.

Nature Communications, 2018

SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2017

Genetic-clinical profile of subjects with apparently sporadic extra-adrenal paragangliomas.

Ramundo V et al.

Frontiers in Endocrinology, 2012

Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.

Lodish MB et al.

Endocrine-related Cancer, 2010

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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."