Varaico: Literature-Extracted Genetic Variants

Gene:RAB5A
Variant:p.N133I
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RAB5A

NM_004162.5:p.N133I

Associated Papers

Impaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons.

Blackburn E et al.

Cell Death & Disease, 2026

TFEB-driven endocytosis coordinates MTORC1 signaling and autophagy.

Nnah IC et al.

Autophagy, 2019

Tau Tubulin Kinase TTBK2 Sensitivity of Glutamate Receptor GluK2.

Nieding K et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2016

Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels.

Seebohm G et al.

Circulation Research, 2008

Regulation of endocytic recycling of KCNQ1/KCNE1 potassium channels.

Seebohm G et al.

Circulation Research, 2007

Functional significance of the kainate receptor GluR6(M836I) mutation that is linked to autism.

Strutz-Seebohm N et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2006

Structure-function relationship of the small GTPase rab5.

Li G et al.

The Journal of Biological Chemistry, 1993

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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."