Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.S100P
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SDHB

NM_003000.3:p.S100P

Associated Papers

3P association and the evolving significance of succinate dehydrogenase (SDHB) mutation in pituitary adenomas.

Agrawal SS et al.

Hormones (athens, Greece), 2025

Research progress on the pathogenesis of the SDHB mutation and related diseases.

Liu C et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?

Branzoli F et al.

Endocrine-related Cancer, 2023

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

Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition.

Güleç Ceylan G et al.

The Tohoku Journal of Experimental Medicine, 2022

Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.

Loughrey PB et al.

Endocrine-related Cancer, 2022

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Garrett A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

34906457 (PubMed )
Supplement: mmc1.xlsx › SupTable2_Variant_Counts

Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.

Yalcintepe S et al.

Journal of Kidney Cancer and Vhl, 2021

The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Xekouki P et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA et al.

Journal of Medical Genetics, 2018

A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma.

Maher M et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2018

Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

Niemeijer ND et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas.

O'Toole SM et al.

Endocrine-related Cancer, 2015

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

Dénes J et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Succinate dehydrogenase deficiency is rare in pituitary adenomas.

Gill AJ et al.

The American Journal of Surgical Pathology, 2014

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Ricketts CJ et al.

Human Mutation, 2010

SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.

Pasini B et al.

Journal of Internal Medicine, 2009

Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

Pollard PJ et al.

Human Molecular Genetics, 2005

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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."