Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.F40Y
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SDS

NM_006843.3:p.F40Y

Associated Papers

Binding of the TRF2 iDDR motif to RAD50 highlights a convergent evolutionary strategy to inactivate MRN at telomeres.

Khayat F et al.

Nucleic Acids Research, 2024

38884214 (PubMed )
Supplement: gkae509_supplemental_file.pdf

Genome mining yields putative disease-associated ROMK variants with distinct defects.

Nguyen NH et al.

Plos Genetics, 2023

Structural basis for channel conduction in the pump-like channelrhodopsin ChRmine.

Kishi KE et al.

Cell, 2022

Multi-mtDNA Variants May Be a Factor Contributing to Mitochondrial Function Variety in the Skin-Derived Fibroblasts of Leber's Hereditary Optic Neuropathy Patients.

Yao S et al.

Frontiers in Molecular Neuroscience, 2022

The KLP-7 Residue S546 Is a Putative Aurora Kinase Site Required for Microtubule Regulation at the Centrosome in C. elegans.

Han X et al.

Plos One, 2015

Structure-function analysis of the yeast NAD+-dependent tRNA 2'-phosphotransferase Tpt1.

Sawaya R et al.

Rna (new York, N.y.), 2005

Identification of functional conserved residues of CTP:glycerol-3-phosphate cytidylyltransferase. Role of histidines in the conserved HXGH in catalysis.

Park YS et al.

The Journal of Biological Chemistry, 1997

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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."