Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.P197delFs
Back to variants list

SDHB

NM_003000.3:p.P197delFs

Associated Papers

Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.

Cardot-Bauters C et al.

Annales D'endocrinologie, 2024

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

From Nonfunctioning Adrenocortical Cancer to Biochemically Silent Paraganglioma Associated with SDHB Mutation: An Uncommon Presentation of a Patient with a Retroperitoneal Mass.

Freitas I et al.

Case Reports in Endocrinology, 2024

Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma.

Fagundes GFC et al.

The Journal of Clinical Endocrinology and Metabolism, 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 › Truncating_Variants

Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.

Lima JV et al.

Endocrine Oncology (bristol, England), 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

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

Martins RG et al.

Clinical Endocrinology, 2020

Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report.

Chen H et al.

Bmc Medical Genetics, 2020

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

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.

Jafri M et al.

Clinical Endocrinology, 2013

[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

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

Benn DE et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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

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

Hereditary paraganglioma targets diverse paraganglia.

Baysal BE

Journal of Medical Genetics, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."