Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.K67Splc
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SDHB

NM_003000.3:p.K67Splc

Associated Papers

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

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

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

Clinicopathological and genomic analysis of pediatric pheochromocytoma and sympathetic paraganglioma.

Kimura N et al.

Endocrine Journal, 2025

Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses.

Yoshihama K et al.

Clinical Genetics, 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

Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation.

Kamai T et al.

Bmc Cancer, 2022

SDHB knockout and succinate accumulation are insufficient for tumorigenesis but dual SDHB/NF1 loss yields SDHx-like pheochromocytomas.

Armstrong N et al.

Cell Reports, 2022

35235785 (PubMed )
Supplement: NIHMS1785223-supplement-1.pdf

Hereditary paraganglioma presenting with atypical symptoms: Case report.

Eguchi S et al.

Medicine, 2021

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

Yonamine M et al.

Cancers, 2021

A Novel SDHB IVS2-2A>C Mutation Is Responsible for Hereditary Pheochromocytoma/Paraganglioma Syndrome.

Yamanaka M et al.

The Tohoku Journal of Experimental Medicine, 2018

Succinate dehydrogenase B-deficient renal cell carcinoma: A case report with novel germline mutation.

Iwashita H et al.

Pathology International, 2017

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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."