Varaico: Literature-Extracted Genetic Variants

Gene:APH1A
Variant:p.G122D
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APH1A

NM_001077628.3:p.G122D

Associated Papers

Characterization of APH-1 mutants with a disrupted transmembrane GxxxG motif.

Araki W et al.

Journal of Molecular Neuroscience : Mn, 2006

Aph-1 contributes to the stabilization and trafficking of the gamma-secretase complex through mechanisms involving intermolecular and intramolecular interactions.

Niimura M et al.

The Journal of Biological Chemistry, 2005

Co-expression of nicastrin and presenilin rescues a loss of function mutant of APH-1.

Edbauer D et al.

The Journal of Biological Chemistry, 2004

A conserved GXXXG motif in APH-1 is critical for assembly and activity of the gamma-secretase complex.

Lee SF et al.

The Journal of Biological Chemistry, 2004

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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."