Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.P131R
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SDHB

NM_003000.3:p.P131R

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

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

Liu C et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 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

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

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

Saxena N et al.

Journal of the National Cancer Institute, 2016

[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

Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.

Alam NA et al.

The Journal of Molecular Diagnostics : Jmd, 2005

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

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

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

Baysal BE et al.

Journal of Medical Genetics, 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."