Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.R19Q
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SBDS

NM_016038.4:p.R19Q

Associated Papers

Structural Implications of Missense Point Mutations in Shwachman-Bodian-Diamond Syndrome Protein (SBDS): A Combined SAXS/MD Investigation.

Mattiotti G et al.

Acs Omega, 2025

A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.

Spinetti E et al.

International Journal of Molecular Sciences, 2022

Tumor-derived DNA from pleural effusion supernatant as a promising alternative to tumor tissue in genomic profiling of advanced lung cancer.

Tong L et al.

Theranostics, 2019

31534501 (PubMed )
Supplement: thnov09p5532s1.pdf

Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.

Gijsbers A et al.

International Journal of Molecular Sciences, 2018

Structure, dynamics, and RNA interaction analysis of the human SBDS protein.

de Oliveira JF et al.

Journal of Molecular Biology, 2010

Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein.

Ng CL et al.

Bmc Structural Biology, 2009

Phylogeny, sequence conservation, and functional complementation of the SBDS protein family.

Boocock GR et al.

Genomics, 2006

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.

Shammas C et al.

The Journal of Biological Chemistry, 2005

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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."