Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.R585Q
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SDHA

NM_004168.4:p.R585Q

Associated Papers

High Succinate peak in Magnetic Resonance Spectroscopy: A Diagnostic Clue for the Leukoencephalopathy Result from Succinate Dehydrogenase Deficiencies.

Koc Ucar H et al.

Iranian Journal of Child Neurology, 2025

Genomic and transcriptomic landscape of human gastrointestinal stromal tumors.

Xie F et al.

Nature Communications, 2024

SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.

Kaplan AI et al.

Endocrine-related Cancer, 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

38473309 (PubMed )
Supplement: cancers-16-00947-s001.zip › Supplementary_Table_S2_-_INT2GRATE___HPPGL_Variant_Data_for_Patients__in_Cohort_2_.xlsx › Sheet1

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.

Schipani A et al.

Genes, 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

Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.

Schipper LJ et al.

Cancers, 2022

35053600 (PubMed )
Supplement: cancers-14-00436-s001.zip › Supplementary_data_-_Detailed_genomic_information_per_sample.xlsx › SNVs__MNVs__indels

Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Zhan Q et al.

Ebiomedicine, 2021

34839264 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Gene Expression Landscape of SDH-Deficient Gastrointestinal Stromal Tumors.

Indio V et al.

Journal of Clinical Medicine, 2021

33806389 (PubMed )
Supplement: jcm-10-01057-s001.zip › Supplementary_Tables.xlsx › Table_S1

SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.

Pantaleo MA et al.

Frontiers in Oncology, 2021

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants

Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).

Maniam P et al.

Journal of the Endocrine Society, 2018

29978154 (PubMed )
Supplement: js.2018-00120.sd1.docx
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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."