Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.E111D
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SDS

NM_006843.3:p.E111D

Associated Papers

Molecular effects of cancer-associated somatic mutations on the structural and target recognition properties of Keap1.

Khan H et al.

The Biochemical Journal, 2015

25582950 (PubMed )
Supplement: supplement_1.pdf

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.

Alaa El Din F et al.

Plos One, 2015

Deletion of the fission yeast homologue of human insulinase reveals a TORC1-dependent pathway mediating resistance to proteotoxic stress.

Beuzelin C et al.

Plos One, 2013

Molecular mechanisms of the Keap1–Nrf2 pathway in stress response and cancer evolution.

Taguchi K et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2011

Purine substrate recognition by the nucleobase-ascorbate transporter signature motif in the YgfO xanthine permease: ASN-325 binds and ALA-323 senses substrate.

Georgopoulou E et al.

The Journal of Biological Chemistry, 2010

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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."