Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.R412*
Back to variants list

IRF6

NM_006147.4:p.R412*

Associated Papers

A novel noncanonical function for IRF6 in the recycling of E-cadherin.

Antiguas A et al.

Molecular Biology of the Cell, 2024

Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.

Yang CW et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024

36866619 (PubMed )
Supplement: sj-docx-1-cpc-10.1177_10556656231157575.docx

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_10

A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.

Slavec L et al.

International Journal of Molecular Sciences, 2023

Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.

Alade AA et al.

Molecular Genetics & Genomic Medicine, 2020

32558391 (PubMed )
Supplement: MGG3-8-e1355-s001.xlsx › Sheet2

Interferon regulatory factor 6 is required for proper wound healing in vivo.

Rhea L et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2020

A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes.

Degen M et al.

Frontiers in Cell and Developmental Biology, 2020

MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.

Gajera M et al.

Bmc Medical Genomics, 2019

31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 3_Human_Cleft_Lip__Table_S3__Significant_R2.xlsx › Single_Gene_Significant

[Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation].

Du XY et al.

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2018

Association between genotype and phenotype of virulence gene in Van der Woude syndrome families.

Li S et al.

Molecular Medicine Reports, 2018

Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome.

Hixon K et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2017

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Phan M et al.

Human Genetics, 2016

27699475 (PubMed )
Supplement: 439_2016_1733_MOESM4_ESM.xlsx › Table_Candidate_Gene_Mutations

Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.

Kwa MQ et al.

Cellular Signalling, 2015

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.

Leslie EJ et al.

American Journal of Medical Genetics. Part A, 2015

Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan.

Malik S et al.

Clinical Genetics, 2014

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.

Leslie EJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

de Lima RL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009

Identification of IRF6 gene variants in three families with Van der Woude syndrome.

Tan EC et al.

International Journal of Molecular Medicine, 2008

A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.

Brosch S et al.

International Journal of Molecular Medicine, 2007

Novel IRF6 mutations in Chinese patients with Van der Woude syndrome.

Du X et al.

Journal of Dental Research, 2006

[Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome].

Du XY et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.

Peyrard-Janvid M et al.

European Journal of Human Genetics : Ejhg, 2005

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Kondo S et al.

Nature Genetics, 2002

Novel IRF6 mutations in Honduran Van der Woude syndrome patients.

Birkeland AC et al.

Molecular Medicine Reports, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."