Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.Q214_A215Splc
Back to variants list

SDHB

NM_003000.3:p.Q214_A215Splc

Associated Papers

3P association and the evolving significance of succinate dehydrogenase (SDHB) mutation in pituitary adenomas.

Agrawal SS et al.

Hormones (athens, Greece), 2025

Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.

Flynn A et al.

Nature Communications, 2025

40097403 (PubMed )
Supplement: 41467_2025_57595_MOESM3_ESM.xlsx › Supplementary_Data_1

SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?

Branzoli F et al.

Endocrine-related Cancer, 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

Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.

Loughrey PB et al.

Endocrine-related Cancer, 2022

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

Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2020

The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Xekouki P et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019

SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2017

Utility of the succinate: Fumarate ratio for assessing SDH dysfunction in different tumor types.

Kim E et al.

Molecular Genetics and Metabolism Reports, 2017

28070496 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.

Xekouki P et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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."