Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.R141G
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PHOX2B

NM_003924.4:p.R141G

Associated Papers

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

Chromosomal localization of PHOX2B during M-phase is disrupted in disease-associated mutants.

Sato Y et al.

Development, Growth & Differentiation, 2025

Association between PHOX2B gene rs28647582 T>C polymorphism and Wilms tumor susceptibility.

Lin A et al.

Bioscience Reports, 2019

Pleiotropic effect of common PHOX2B variants in Hirschsprung disease and neuroblastoma.

Zhao J et al.

Aging, 2019

Genetic susceptibility to neuroblastoma: current knowledge and future directions.

Ritenour LE et al.

Cell and Tissue Research, 2018

Retinoblastoma and Neuroblastoma Predisposition and Surveillance.

Kamihara J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.

Heide S et al.

Pediatric Blood & Cancer, 2016

Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma.

Wang W et al.

Oncogene, 2014

Distinct neuroblastoma-associated alterations of PHOX2B impair sympathetic neuronal differentiation in zebrafish models.

Pei D et al.

Plos Genetics, 2013

Molecular pathogenesis of peripheral neuroblastic tumors.

Janoueix-Lerosey I et al.

Oncogene, 2010

Neuroblastoma phox2b variants stimulate proliferation and dedifferentiation of immature sympathetic neurons.

Reiff T et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.

Trochet D et al.

Human Mutation, 2009

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.

Trochet D et al.

American Journal of Respiratory and Critical Care Medicine, 2008

PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.

McConville C et al.

American Journal of Medical Genetics. Part A, 2006

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.

Trochet D et al.

Human Molecular Genetics, 2005

PHOX2B mutations and genetic predisposition to neuroblastoma.

Perri P et al.

Oncogene, 2005

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

Trochet D et al.

American Journal of Human Genetics, 2004

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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."