Varaico: Literature-Extracted Genetic Variants

Gene:NAPA
Variant:p.F28S
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NAPA

NM_003827.4:p.F28S

Associated Papers

A pathogenic mutation in α-SNAP impairs membrane lipid binding by concealing a critical hydrophobic loop.

Méndez-Ruette M et al.

Communications Biology, 2026

41565995 (PubMed )
Supplement: 42003_2026_9578_MOESM1_ESM.pdf

Munc18c accelerates SNARE-dependent membrane fusion in the presence of regulatory proteins α-SNAP and NSF.

Liu F et al.

The Journal of Biological Chemistry, 2024

Munc18-1 is crucial to overcome the inhibition of synaptic vesicle fusion by αSNAP.

Stepien KP et al.

Nature Communications, 2019

31548544 (PubMed )
Supplement: 41467_2019_12188_MOESM1_ESM.pdf

α-SNAP interferes with the zippering of the SNARE protein membrane fusion machinery.

Park Y et al.

The Journal of Biological Chemistry, 2014

An essential and NSF independent role for α-SNAP in store-operated calcium entry.

Miao Y et al.

Elife, 2013

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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."