Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.L87S
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SDHB

NM_003000.3:p.L87S

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

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

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

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

SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma.

Bayley JP et al.

Journal of Medical Genetics, 2023

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

Concurrent Birt-Hogg-Dubé Syndrome and Hereditary Paraganglioma-Pheochromocytoma Syndrome Presenting as Metastatic Renal Cell Carcinoma in a 25-Year-Old Man: A Case Report.

Boland J et al.

The Permanente Journal, 2020

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

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

The occurrence of SDHB gene mutations in pheochromocytoma.

Van Nederveen FH et al.

Annals of the New York Academy of Sciences, 2006

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

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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."