Varaico: Literature-Extracted Genetic Variants

Gene:DYNAP
Variant:p.E174A
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DYNAP

NM_173629.3:p.E174A

Associated Papers

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.

Li S et al.

Bmc Medical Genomics, 2022

36329483 (PubMed )
Supplement: 12920_2022_1379_MOESM4_ESM.pdf

RIF1 acts in DNA repair through phosphopeptide recognition of 53BP1.

Setiaputra D et al.

Molecular Cell, 2022

A functional role for a flexible loop containing Glu182 in the class II fructose-1,6-bisphosphate aldolase from Escherichia coli.

Zgiby S et al.

Journal of Molecular Biology, 2002

Site-directed mutagenesis of human endothelial cell ecto-ADPase/soluble CD39: requirement of glutamate 174 and serine 218 for enzyme activity and inhibition of platelet recruitment.

Drosopoulos JH et al.

Biochemistry, 2000

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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."