Varaico: Literature-Extracted Genetic Variants

Gene:RAB8A
Variant:p.Q67L
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RAB8A

NM_005370.5:p.Q67L

Associated Papers

Structural basis for binding of RILPL1 to TMEM55B reveals a lysosomal platform for adaptor assembly through a conserved peptide motif.

Waschbüsch D et al.

Structure (london, England : 1993), 2026

Functional and Structural Insights Into Complex Formation Between OPTN Leucine Zipper Domain and RAB8A.

Okatsu K et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2025

TPC2: From Blond Hair to Melanoma?

Abrahamian C et al.

Cancers, 2024

Rab7a is an enhancer of TPC2 activity regulating melanoma progression through modulation of the GSK3β/β-Catenin/MITF-axis.

Abrahamian C et al.

Nature Communications, 2024

A direct interaction between CENTLEIN and RABIN8 is required for primary cilium formation.

Li L et al.

Acta Biochimica Et Biophysica Sinica, 2023

Rab8 and TNPO1 are ciliary transport adaptors for GTPase Arl13b by interacting with its RVEP motif containing ciliary targeting sequence.

Mahajan D et al.

The Journal of Biological Chemistry, 2023

Rgp1 contributes to craniofacial cartilage development and Rab8a-mediated collagen II secretion.

Ritter DJ et al.

Frontiers in Endocrinology, 2023

CEP290 is essential for the initiation of ciliary transition zone assembly.

Wu Z et al.

Plos Biology, 2020

TMEM135 regulates primary ciliogenesis through modulation of intracellular cholesterol distribution.

Maharjan Y et al.

Embo Reports, 2020

The G2019S variant of leucine-rich repeat kinase 2 (LRRK2) alters endolysosomal trafficking by impairing the function of the GTPase RAB8A.

Rivero-Ríos P et al.

The Journal of Biological Chemistry, 2019

M98K-OPTN induces transferrin receptor degradation and RAB12-mediated autophagic death in retinal ganglion cells.

Sirohi K et al.

Autophagy, 2013

Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.

Murga-Zamalloa CA et al.

The Journal of Biological Chemistry, 2011

The AP-1 clathrin adaptor facilitates cilium formation and functions with RAB-8 in C. elegans ciliary membrane transport.

Kaplan OI et al.

Journal of Cell Science, 2010

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.

Murga-Zamalloa CA et al.

Human Molecular Genetics, 2010

Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.

Chi ZL et al.

Human Molecular Genetics, 2010

Sensory signaling-dependent remodeling of olfactory cilia architecture in C. elegans.

Mukhopadhyay S et al.

Developmental Cell, 2008

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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."