Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.C192R
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SDHB

NM_003000.3:p.C192R

Associated Papers

Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype-Phenotype Relationships.

Lee S et al.

The Journal of Clinical Investigation, 2025

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

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

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

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

Ben Aim L et al.

Journal of Medical Genetics, 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

Extensive patient-to-patient single nucleus transcriptome heterogeneity in pheochromocytomas and paragangliomas.

Brazda P et al.

Frontiers in Oncology, 2022

Hereditary Paraganglioma in an Omani Family.

Pambinezhthu F et al.

Oman Medical Journal, 2021

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

Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.

Rijken JA et al.

Cancers, 2019

Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations.

Rijken JA et al.

Bjs Open, 2018

The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.

Rijken JA et al.

Clinical Genetics, 2018

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

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2017

The phenotype of SDHB germline mutation carriers: a nationwide study.

Niemeijer ND et al.

European Journal of Endocrinology, 2017

Mediastinal paragangliomas related to SDHx gene mutations.

Michałowska I et al.

Kardiochirurgia I Torakochirurgia Polska = Polish Journal of Cardio-thoracic Surgery, 2016

Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.

Michałowska I et al.

Polish Journal of Radiology, 2016

Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography.

Michałowska I et al.

Neuroendocrinology, 2015

Repository of mutations from Oman: The entry point to a national mutation database.

Rajab A et al.

F1000research, 2015

Phenotype of SDHB mutation carriers in the Netherlands.

van Hulsteijn LT et al.

Familial Cancer, 2014

Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.

Yang C et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012

[The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].

Zu TJ et al.

Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2011

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Burnichon N et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.

Klein RD et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2008

Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

Timmers HJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

The occurrence of SDHB gene mutations in pheochromocytoma.

Van Nederveen FH et al.

Annals of the New York Academy of Sciences, 2006

Mutations of the SDHB and SDHD genes.

Pawlu C et al.

Familial Cancer, 2005

SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.

Mhatre AN et al.

Clinical Genetics, 2004

A thyroid nodule revealing a paraganglioma in a patient with a new germline mutation in the succinate dehydrogenase B gene.

Zantour B et al.

European Journal of Endocrinology, 2004

A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.

Maier-Woelfle M et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

Benn DE et al.

Oncogene, 2003

The pressure rises: update on the genetics of phaeochromocytoma.

Maher ER et al.

Human Molecular Genetics, 2002

Hereditary paraganglioma targets diverse paraganglia.

Baysal BE

Journal of Medical Genetics, 2002

Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene.

Young AL et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

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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."