Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.R46Q
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SDHB

NM_003000.3:p.R46Q

Associated Papers

FASN targeting by G28UCM impairs mitochondrial fatty acid synthesis and reveals a FASN-SDHB synthetic interaction.

Wilfinger-Lutz N et al.

Pharmacological Research, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s011.xlsx › Sheet1

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-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

Succinate Dehydrogenase-Deficient Cancer Cells Have Increased Susceptibility to Ym155 Induced DNA Damage.

Guo Q et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Germline Mutations in Renal Neoplasms and Their Clinicopathological Correlations.

Chen M et al.

International Journal of Surgical Pathology, 2025

Clinicopathological and genomic analysis of pediatric pheochromocytoma and sympathetic paraganglioma.

Kimura N et al.

Endocrine Journal, 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

Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?

Gao Z et al.

Prenatal Diagnosis, 2025

Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.

Ősz F et al.

Antioxidants (basel, Switzerland), 2025

A Novel Human SDHA-Knockout Cell Line Model for the Functional Analysis of Clinically Relevant SDHA Variants.

Kent JD et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.

Jo KH et al.

Annals of Laboratory Medicine, 2024

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

Cardot-Bauters C et al.

Annales D'endocrinologie, 2024

Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors.

Nishida T et al.

Cancer Science, 2024

Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.

Rana HQ et al.

Cancers, 2024

Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.

Giger OT et al.

Journal of Clinical Pathology, 2023

Research progress on the pathogenesis of the SDHB mutation and related diseases.

Liu C et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

Congenital Cyanotic Heart Disease and the Association with Pheochromocytomas and Paragangliomas.

Jones RB et al.

Current Cardiology Reports, 2023

High rates of the SDHB p.Arg46Gln pathogenic variant predisposes New Zealand Māori to phaeochromocytoma/paraganglioma.

Shand JAD et al.

Internal Medicine Journal, 2023

Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.

Davidoff DF et al.

Endocrine-related Cancer, 2023

Mitochondrial redox adaptations enable alternative aspartate synthesis in SDH-deficient cells.

Hart ML et al.

Elife, 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 › Missense_Variants

SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma.

Bayley JP et al.

Journal of Medical Genetics, 2023

Defining the origin, evolution, and immune composition of SDH-deficient renal cell carcinoma.

Neves JB et al.

Iscience, 2022

36345344 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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

Germline sequencing for presumed germline pathogenic variants via tumor-only comprehensive genomic profiling.

Kondo T et al.

International Journal of Clinical Oncology, 2022

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Savatt JM et al.

Bmc Medicine, 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

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

Bladder paraganglioma, gastrointestinal stromal tumor, and SDHB germline mutation in a patient with Carney-Stratakis syndrome: A case report and literature review.

Shi Y et al.

Frontiers in Oncology, 2022

Kidney tumors associated with germline mutations of FH and SDHB show a CpG island methylator phenotype (CIMP).

Ricketts CJ et al.

Plos One, 2022

36455002 (PubMed )
Supplement: pone.0278108.s001.xlsx › Patient_Data

SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.

Milionis V et al.

Clinical Case Reports, 2021

Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Yonamine M et al.

Cancers, 2021

Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports.

Hirose R et al.

Journal of Medical Case Reports, 2021

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

Choi YM et al.

Cancers, 2021

GIPC2 is an endocrine-specific tumor suppressor gene for both sporadic and hereditary tumors of RET- and SDHB-, but not VHL-associated clusters of pheochromocytoma/paraganglioma.

Dong Y et al.

Cell Death & Disease, 2021

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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."