Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.R6C
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IRF6

NM_006147.4:p.R6C

Associated Papers

Genetic variant classification by predicted protein structure: A case study on IRF6.

Murali H et al.

Computational and Structural Biotechnology Journal, 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

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

Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.

Li EB et al.

Plos Genetics, 2017

Genetic and epigenetic stability of oligodendrogliomas at recurrence.

Aihara K et al.

Acta Neuropathologica Communications, 2017

28270234 (PubMed )
Supplement: 40478_2017_422_MOESM1_ESM.xlsx › 3_Mutations

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

IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.

Leslie EJ et al.

Clinical Genetics, 2016

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

23154523 (PubMed )
Supplement: gim2012141x1.pdf

Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.

Salahshourifar I et al.

European Journal of Medical Genetics, 2012

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Desmyter L et al.

Molecular Syndromology, 2010

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

[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province].

Wang XF et al.

Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2005

Gene symbol: IRF6. Disease: Van der Woude syndrome.

Mostowska A et al.

Human Genetics, 2005

Novel mutations in the IRF6 gene for Van der Woude syndrome.

Wang X et al.

Human Genetics, 2003

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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."