Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.D15A
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SDS

NM_006843.3:p.D15A

Associated Papers

The N-terminal signature motif on the transporter MCT1 is critical for CD147-mediated trafficking.

Seka DJ et al.

The Journal of Biological Chemistry, 2024

Molecular Basis for Mambalgin-2 Interaction with Heterotrimeric α-ENaC/ASIC1a/γ-ENaC Channels in Cancer Cells.

Lyukmanova EN et al.

Toxins, 2023

Cryo-EM structure of the human ferritin-transferrin receptor 1 complex.

Montemiglio LC et al.

Nature Communications, 2019

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy.

Wu X et al.

Human Molecular Genetics, 2017

Identification of essential arginine residues of Escherichia coli DedA/Tvp38 family membrane proteins YqjA and YghB.

Kumar S et al.

Fems Microbiology Letters, 2016

Genetic characterization of antiplasmid immunity through a type III-A CRISPR-Cas system.

Hatoum-Aslan A et al.

Journal of Bacteriology, 2014

Gating-related molecular motions in the extracellular domain of the IKs channel: implications for IKs channelopathy.

Wang YH et al.

The Journal of Membrane Biology, 2011

The conserved N-terminal helix of acylpeptide hydrolase from archaeon Aeropyrum pernix K1 is important for its hyperthermophilic activity.

Zhang Z et al.

Biochimica Et Biophysica Acta, 2008

The N-terminal region of the starch-branching enzyme from Phaseolus vulgaris L. is essential for optimal catalysis and structural stability.

Hamada S et al.

Phytochemistry, 2007

The amino terminus and the third extracellular loop of CX3CR1 contain determinants critical for distinct receptor functions.

Chen Y et al.

Molecular Pharmacology, 2006

Essential constituents of the 3'-phosphoesterase domain of bacterial DNA ligase D, a nonhomologous end-joining enzyme.

Zhu H et al.

The Journal of Biological Chemistry, 2005

Biochemical characterization of domains in the membrane subunit DrrB that interact with the ABC subunit DrrA: identification of a conserved motif.

Kaur P et al.

Biochemistry, 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."