Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.P250T
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MAPT

NM_001377265.1:p.P250T

Associated Papers

A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor alpha1 subunit reduces membrane expression and impairs gating by agonists.

Castaldo P et al.

The Journal of Biological Chemistry, 2004

Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1(P250) govern glycine receptor activation and desensitization.

Breitinger HG et al.

The Journal of Biological Chemistry, 2001

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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."