Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.S345A
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STXBP1

NM_001032221.6:p.S345A

Associated Papers

Activation of p47(PHOX), a cytosolic subunit of the leukocyte NADPH oxidase. Phosphorylation of ser-359 or ser-370 precedes phosphorylation at other sites and is required for activity.

Johnson JL et al.

The Journal of Biological Chemistry, 1998

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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."