Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.R43R
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SDS

NM_006843.3:p.R43R

Associated Papers

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

Mapping the Substrate-Binding Sites in the Phosphatidylserine Synthase in Candida albicans.

Zhou Y et al.

Frontiers in Cellular and Infection Microbiology, 2021

Modelling, substrate docking and mutational analysis identify residues essential for function and specificity of the major fungal purine transporter AzgA.

Krypotou E et al.

Molecular Microbiology, 2014

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Burnichon N et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

Timmers HJ et al.

Clinical Endocrinology, 2008

The conserved glycine/alanine residue of the active-site loop containing the putative acetylCoA-binding motif is essential for the overall structural integrity of Mesorhizobium loti arylamine N-acetyltransferase 1.

Atmane N et al.

Biochemical and Biophysical Research Communications, 2007

Mutations of the SDHB and SDHD genes.

Pawlu C et al.

Familial Cancer, 2005

Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

Riemann K et al.

Cancer Genetics and Cytogenetics, 2004

Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.

Braun S et al.

Anticancer Research, 0

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