Varaico: Literature-Extracted Genetic Variants

Gene:VANGL2
Variant:p.R259L
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VANGL2

NM_020335.3:p.R259L

Associated Papers

Mutations associated with human neural tube defects display disrupted planar cell polarity in Drosophila.

Humphries AC et al.

Elife, 2020

Identification and characterization of a novel chemically induced allele at the planar cell polarity gene Vangl2.

El-Hassan AR et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2018

Independent mutations at Arg181 and Arg274 of Vangl proteins that are associated with neural tube defects in humans decrease protein stability and impair membrane targeting.

Iliescu A et al.

Biochemistry, 2014

A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene.

Guyot MC et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2011

Transmembrane topology of mammalian planar cell polarity protein Vangl1.

Iliescu A et al.

Biochemistry, 2011

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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."