Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.C49S
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SDS

NM_006843.3:p.C49S

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 › Missense_Variants

Biophysical analysis of a lethal laminin alpha-1 mutation reveals altered self-interaction.

Patel TR et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2016

Structural characterization of PTX3 disulfide bond network and its multimeric status in cumulus matrix organization.

Inforzato A et al.

The Journal of Biological Chemistry, 2008

Site-directed mutagenesis studies of acetylglutamate synthase delineate the site for the arginine inhibitor.

Sancho-Vaello E et al.

Febs Letters, 2008

Identification of essential amino acid residues for catalytic activity and thermostability of novel chitosanase by site-directed mutagenesis.

Yoon HG et al.

Applied Microbiology and Biotechnology, 2001

Tubulin folding is altered by mutations in a putative GTP binding motif.

Zabala JC et al.

Journal of Cell Science, 1996

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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."