Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.M17I
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SDS

NM_006843.3:p.M17I

Associated Papers

Multiple Quality Control Checkpoints Safeguard Small Nuclear RNA Biogenesis and Prevent Assembly of Aberrant Spliceosomes.

Ma T et al.

Biorxiv : the Preprint Server for Biology, 2025

Mapping active site residues in glutamate-5-kinase. The substrate glutamate and the feed-back inhibitor proline bind at overlapping sites.

Pérez-Arellano I et al.

Febs Letters, 2006

Close correlation of streptococcal DNase B (sdaB) alleles with emm genotypes in Streptococcus pyogenes.

Matsumoto M et al.

Microbiology and Immunology, 2005

Structural and functional role of helices I and II in rhodopsin. A novel interplay evidenced by mutations at Gly-51 and Gly-89 in the transmembrane domain.

Bosch L et al.

The Journal of Biological Chemistry, 2003

Site-directed mutagenesis of diphosphoinositol polyphosphate phosphohydrolase, a dual specificity NUDT enzyme that attacks diadenosine polyphosphates and diphosphoinositol polyphosphates.

Yang X et al.

The Journal of Biological Chemistry, 1999

Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled.

Hwa J et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."