Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D4
Variant:p.T642A
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TBC1D4

NM_014832.5:p.T642A

Associated Papers

AS160 is a lipid-responsive regulator of cardiac Ca2+ homeostasis by controlling lysophosphatidylinositol metabolism and signaling.

Su S et al.

Nature Communications, 2024

Delineating the folding perturbations and molecular mechanisms of Thr-Ala 642 mutation in Rab-GTPase activating protein Akt substrate of 160kDa and its impact on the aetiology of diabetes.

Nagpal U et al.

Journal of Biomolecular Structure & Dynamics, 2021

Targeting RalGAPα1 in skeletal muscle to simultaneously improve postprandial glucose and lipid control.

Chen Q et al.

Science Advances, 2019

AS160 modulates aldosterone-stimulated epithelial sodium channel forward trafficking.

Liang X et al.

Molecular Biology of the Cell, 2010

Identification of a novel phosphorylation site on TBC1D4 regulated by AMP-activated protein kinase in skeletal muscle.

Treebak JT et al.

American Journal of Physiology. Cell Physiology, 2010

Substrate specificity and effect on GLUT4 translocation of the Rab GTPase-activating protein Tbc1d1.

Roach WG et al.

The Biochemical Journal, 2007

A role for 14-3-3 in insulin-stimulated GLUT4 translocation through its interaction with the RabGAP AS160.

Ramm G et al.

The Journal of Biological Chemistry, 2006

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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."