Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.L65P
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SDHB

NM_003000.3:p.L65P

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

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

Targeted Quantification of Carbon Metabolites Identifies Metabolic Progression Markers and an Undiagnosed Case of SDH-Deficient Clear Cell Renal Cell Carcinoma in a German Cohort.

William D et al.

Metabolites, 2021

Mutation Profile of Aggressive Pheochromocytoma and Paraganglioma with Comparison of TCGA Data.

Choi YM et al.

Cancers, 2021

Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.

Yang C et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012

Genetic basis of phaeochromocytoma and paraganglioma.

Benn DE et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2006

The occurrence of SDHB gene mutations in pheochromocytoma.

Van Nederveen FH et al.

Annals of the New York Academy of Sciences, 2006

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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."