Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.F60I
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SDS

NM_006843.3:p.F60I

Associated Papers

Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast.

Baranowska E et al.

Disease Models & Mechanisms, 2023

Myosin 3A kinase activity is regulated by phosphorylation of the kinase domain activation loop.

Quintero OA et al.

The Journal of Biological Chemistry, 2013

Functional dissection of the DNA interface of the nucleotidyltransferase domain of chlorella virus DNA ligase.

Samai P et al.

The Journal of Biological Chemistry, 2011

Arginine 186 in the extracellular N-terminal region of the human parathyroid hormone 1 receptor is essential for contact with position 13 of the hormone.

Adams AE et al.

Molecular Endocrinology (baltimore, Md.), 1998

Significance of Thr182 in the nucleotide-exchange and GTP-hydrolysis reactions of the alpha subunit of GTP-binding protein Gi2.

Nishina H et al.

Journal of Biochemistry, 1995

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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."