Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.D32N
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SDS

NM_006843.3:p.D32N

Associated Papers

Catalytic mechanism of trans-2-enoyl-CoA reductases in the fatty acid elongation cycle and its cooperative action with fatty acid elongases.

Kato R et al.

The Journal of Biological Chemistry, 2024

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.

Asif M et al.

Hgg Advances, 2022

35571680 (PubMed )
Supplement: mmc1.pdf

Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review).

Jiménez-Morales S et al.

International Journal of Oncology, 2018

FKBP12.6 activates RyR1: investigating the amino acid residues critical for channel modulation.

Venturi E et al.

Biophysical Journal, 2014

24559985 (PubMed )
Supplement: mmc1.pdf

Identification of critical residues of the mycobacterial dephosphocoenzyme a kinase by site-directed mutagenesis.

Walia G et al.

Plos One, 2011

Molecular mapping of the RNA Cap 2'-O-methyltransferase activation interface between severe acute respiratory syndrome coronavirus nsp10 and nsp16.

Lugari A et al.

The Journal of Biological Chemistry, 2010

Comparative study of the ion flux pathway in stator units of proton- and sodium-driven flagellar motors.

Sudo Y et al.

Biophysics (nagoya-shi, Japan), 2009

Three key residues underlie the differential affinity of the TGFbeta isoforms for the TGFbeta type II receptor.

De Crescenzo G et al.

Journal of Molecular Biology, 2006

Conserved residues in domain Ia are required for the reaction of Escherichia coli DNA ligase with NAD+.

Sriskanda V et al.

The Journal of Biological Chemistry, 2002

Active-site residues are critical for the folding and stability of methylamine dehydrogenase.

Sun D et al.

Protein Engineering, 2001

Mutation of the conserved Gly94 and Gly126 in elongation factor Tu from Escherichia coli. Elucidation of their structural and functional roles.

Knudsen CR et al.

European Journal of Biochemistry, 1995

Molecular mechanism of amyloidogenic mutations in hypervariable regions of antibody light chains.

Rottenaicher GJ et al.

The Journal of Biological Chemistry, 0

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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."