Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.R230G
Back to variants list

SDHB

NM_003000.3:p.R230G

Associated Papers

Comprehensive Genetic Study of Malignant Cervical Paraganglioma.

Snezhkina A et al.

International Journal of Molecular Sciences, 2023

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

Davidoff DF 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 › Missense_Variants

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

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

Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.

Hoekstra AS et al.

Oncotarget, 2017

28099933 (PubMed )
Supplement: oncotarget-08-14525-s002.xls › tumors

Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis.

Cardaci S et al.

Nature Cell Biology, 2015

26302408 (PubMed )
Supplement: NIHMS64521-supplement-SuppTable2.xlsx › Sheet1

Genetic testing in pheochromocytoma: increasing importance for clinical decision making.

Bornstein SR et al.

Annals of the New York Academy of Sciences, 2006

Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.

Castellano M et al.

Annals of the New York Academy of Sciences, 2006

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."