Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.E132A
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STXBP1

NM_001032221.6:p.E132A

Associated Papers

Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.

Spessott WA et al.

Blood, 2015

Vesicle fusion probability is determined by the specific interactions of munc18.

Smyth AM et al.

The Journal of Biological Chemistry, 2010

Rescue of Munc18-1 and -2 double knockdown reveals the essential functions of interaction between Munc18 and closed syntaxin in PC12 cells.

Han L et al.

Molecular Biology of the Cell, 2009

Abrogating Munc18-1-SNARE complex interaction has limited impact on exocytosis in PC12 cells.

Malintan NT et al.

The Journal of Biological Chemistry, 2009

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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."