Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.A328V
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C3

NM_000064.4:p.A328V

Associated Papers

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.

Rhayem Y et al.

The Journal of Biological Chemistry, 2015

Comparison of random mutagenesis and semi-rational designed libraries for improved cytochrome P450 BM3-catalyzed hydroxylation of small alkanes.

Chen MM et al.

Protein Engineering, Design & Selection : Peds, 2012

In silico structure-function analysis of pathological variation in the HSD11B2 gene sequence.

Manning JR et al.

Physiological Genomics, 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."