Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.C101Y
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SDHB

NM_003000.3:p.C101Y

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

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

SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.

Casey RT et al.

Scientific Reports, 2019

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

Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.

Casey RT et al.

Jco Precision Oncology, 2018

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

Succinate dehydrogenase subunit B mutations modify human neuroblastoma cell metabolism and proliferation.

Rapizzi E et al.

Hormones & Cancer, 2014

[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

Somatic SDHB mutation in an extraadrenal pheochromocytoma.

van Nederveen FH et al.

The New England Journal of Medicine, 2007

Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma.

Korpershoek E et al.

Endocrine-related Cancer, 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

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."