Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.H127Y
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SDHC

NM_003001.5:p.H127Y

Associated Papers

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

Succinate Dehydrogenase and Ribonucleic Acid Networks in Cancer and Other Diseases.

Moreno C et al.

Cancers, 2020

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Gieldon L et al.

Cancers, 2019

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30050099 (PubMed )
Supplement: NIHMS1505462-supplement-Supplementary_information_3.xlsx › SDHx_variants

The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).

Else T et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Structure, function, and assembly of heme centers in mitochondrial respiratory complexes.

Kim HJ et al.

Biochimica Et Biophysica Acta, 2012

Protein-mediated assembly of succinate dehydrogenase and its cofactors.

Van Vranken JG et al.

Critical Reviews in Biochemistry and Molecular Biology, 0

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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."