Varaico: Literature-Extracted Genetic Variants

Gene:RAB35
Variant:p.S22N
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RAB35

NM_006861.7:p.S22N

Associated Papers

A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35.

Aguila A et al.

The Journal of Biological Chemistry, 2024

TBC1D10C is a cytoskeletal functional linker that modulates cell spreading and phagocytosis in macrophages.

Villagomez FR et al.

Scientific Reports, 2021

IRSp53 controls plasma membrane shape and polarized transport at the nascent lumen in epithelial tubules.

Bisi S et al.

Nature Communications, 2020

Rab35 controls cilium length, function and membrane composition.

Kuhns S et al.

Embo Reports, 2019

LRRK2 kinase regulates α-synuclein propagation via RAB35 phosphorylation.

Bae EJ et al.

Nature Communications, 2018

Rab35 GTPase: A Central Regulator of Phosphoinositides and F-actin in Endocytic Recycling and Beyond.

Klinkert K et al.

Traffic (copenhagen, Denmark), 2016

LowMACA: exploiting protein family analysis for the identification of rare driver mutations in cancer.

Melloni GE et al.

Bmc Bioinformatics, 2016

26860319 (PubMed )
Supplement: 12859_2016_935_MOESM2_ESM.xlsx › Table_S5

Regulation of T Cell Receptor Signaling by DENND1B in TH2 Cells and Allergic Disease.

Yang CW et al.

Cell, 2016

Identification of an oncogenic RAB protein.

Wheeler DB et al.

Science (new York, N.y.), 2015

Phosphorylation-dependent Regulation of Connecdenn/DENND1 Guanine Nucleotide Exchange Factors.

Kulasekaran G et al.

The Journal of Biological Chemistry, 2015

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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."