Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.W47*
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SDHB

NM_003000.3:p.W47*

Associated Papers

Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.

Ambulkar KS et al.

Endocrine Connections, 2025

40981001 (PubMed )
Supplement: supplementary_materials.pdf

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

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-escaping_mutations

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 › Truncating_Variants

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7

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

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

Casey RT et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Integrative genetic, epigenetic and pathological analysis of paraganglioma reveals complex dysregulation of NOTCH signaling.

Cama A et al.

Acta Neuropathologica, 2013

23955600 (PubMed )
Supplement: 401_2013_1165_MOESM1_ESM.pdf

Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

Ricketts CJ et al.

The Journal of Urology, 2012

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Ricketts CJ et al.

Human Mutation, 2010

Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.

Srirangalingam U et al.

Endocrine-related Cancer, 2009

SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.

Henderson A et al.

Familial Cancer, 2009

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.

Srirangalingam U et al.

Clinical Endocrinology, 2008

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

Bayley JP et al.

Bmc Medical Genetics, 2006

Neuroendocrine tumors and tumor syndromes in childhood.

Gaal J et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."