Varaico: Literature-Extracted Genetic Variants

Gene:VANGL2
Variant:p.S464N
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VANGL2

NM_020335.3:p.S464N

Associated Papers

Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations.

Feng X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

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

Humphries AC et al.

Elife, 2020

Vangl2 interaction plays a role in the proteasomal degradation of Prickle2.

Nagaoka T et al.

Scientific Reports, 2019

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

The planar cell polarity protein Vangl2 is required for retinal axon guidance.

Leung V et al.

Developmental Neurobiology, 2016

Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.

Merello E et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2015

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice.

Murdoch JN et al.

Disease Models & Mechanisms, 2014

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

Identification of novel CELSR1 mutations in spina bifida.

Lei Y et al.

Plos One, 2014

Molecular characterisation of endogenous Vangl2/Vangl1 heteromeric protein complexes.

Belotti E et al.

Plos One, 2012

Contribution of VANGL2 mutations to isolated neural tube defects.

Kibar Z et al.

Clinical Genetics, 2011

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

VANGL2 mutations in human cranial neural-tube defects.

Lei YP et al.

The New England Journal of Medicine, 2010

Molecular and cellular mechanisms underlying neural tube defects in the loop-tail mutant mouse.

Gravel M et al.

Biochemistry, 2010

Genetic interaction between members of the Vangl family causes neural tube defects in mice.

Torban E et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification.

Murdoch JN et al.

Human Molecular Genetics, 2001

Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail.

Kibar Z et al.

Nature Genetics, 2001

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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."