Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.M70K
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SDS

NM_006843.3:p.M70K

Associated Papers

Roles of Conserved Active Site Residues in the Ketosynthase Domain of an Assembly Line Polyketide Synthase.

Robbins T et al.

Biochemistry, 2016

Identification of lethal mutations in yeast threonyl-tRNA synthetase revealing critical residues in its human homolog.

Ruan ZR et al.

The Journal of Biological Chemistry, 2015

Mechanisms of melanocortin-2 receptor (MC2R) internalization and recycling in human embryonic kidney (hek) cells: identification of Key Ser/Thr (S/T) amino acids.

Roy S et al.

Molecular Endocrinology (baltimore, Md.), 2011

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

Mandey SH et al.

Human Mutation, 2006

Ubiquitin-like protein Hub1 is required for pre-mRNA splicing and localization of an essential splicing factor in fission yeast.

Wilkinson CR et al.

Current Biology : Cb, 2004

Delineation of the key amino acids involved in neutrophil inhibitory factor binding to the I-domain supports a mosaic model for the capacity of integrin alphaMbeta 2 to recognize multiple ligands.

Ustinov VA et al.

The Journal of Biological Chemistry, 2002

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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."