Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.A43P
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SDHB

NM_003000.3:p.A43P

Associated Papers

In-silico identification and functional analysis of high-risk oncogenic nsSNPs in the human SDHB gene and their implications for cancer susceptibility.

Siddiqui AJ et al.

3 Biotech, 2025

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

34452955 (PubMed )
Supplement: jmedgenet-2020-107652supp002.xlsx › SDHB_variants

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

Surveillance of succinate dehydrogenase gene mutation carriers: Insights from a nationwide cohort.

Martins RG et al.

Clinical Endocrinology, 2020

SDHx-related pheochromocytoma/paraganglioma - genetic, clinical, and treatment outcomes in a series of 30 patients from a single center.

Donato S et al.

Endocrine, 2019

Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.

Dwight T et al.

Bmc Cancer, 2017

SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.

Saxena N et al.

Journal of the National Cancer Institute, 2016

Structural and functional consequences of succinate dehydrogenase subunit B mutations.

Kim E et al.

Endocrine-related Cancer, 2015

Corrigendum: inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors.

Xiao M et al.

Genes & Development, 2015

A founder SDHB mutation in Portuguese paraganglioma patients.

Martins RG et al.

Endocrine-related Cancer, 2013

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

Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors.

Xiao M et al.

Genes & Development, 2012

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

Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.

Amar L 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

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

Benn DE et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Mutations of the SDHB and SDHD genes.

Pawlu C et al.

Familial Cancer, 2005

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

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