Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.V274I
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IRF6

NM_006147.4:p.V274I

Associated Papers

IRF6 Gene Polymorphisms Influence the Susceptibility of Nonsyndromic Cleft Lips With or Without Palate: A MOOSE-Compliant Meta-Analysis.

Sahu R et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2026

Genetic Variability of IRF6 Polymorphisms in Non-Syndromic Cleft Lip/Palate: A Meta-Analysis Across Diverse Populations.

Muruganantham JK et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2026

Parental transmission effects of the IRF6 polymorphisms among Non-Syndromic Cleft Lip with or without cleft palate in Kerala case parent trios.

Alappat RR et al.

Archives of Oral Biology, 2025

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

Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.

Lin H et al.

Heliyon, 2024

38826758 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case-Control and Family-Based Study.

Pham LNG et al.

Genes, 2023

Genetic Factors of Teeth Impaction: Polymorphic and Haplotype Variants of PAX9, MSX1, AXIN2, and IRF6 Genes.

Trybek G et al.

International Journal of Molecular Sciences, 2023

A Variant in the IRF6 Promoter Associated with the Risk for Orofacial Clefting.

Li MJ et al.

Journal of Dental Research, 2023

Association of single nucleotide polymorphisms in the IRF6 gene with nonsyndromic cleft lip with or without cleft palate in Kinh Vietnamese patients.

Phan HDB et al.

Molecular Biology Reports, 2023

IRF6 and FGF1 polymorphisms in non-syndromic cleft lip with or without cleft palate in the Polish population.

Zawiślak A et al.

Open Medicine (warsaw, Poland), 2023

Association Between SNPs in 1q32.2 and NSCL ± P in Han Chinese Population.

Yin B et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2022

Dental anomalies in non-syndromic orofacial clefts: A clinical approach.

das Neves LT et al.

Oral Diseases, 2022

Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.

Velázquez-Aragón JA et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2021

Association Between IRF6 Variants and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.

Suazo J et al.

Reproductive Sciences (thousand Oaks, Calif.), 2020

PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate.

Maili L et al.

Birth Defects Research, 2020

Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate.

Saleem K et al.

Heliyon, 2019

Association Between an Interferon Regulatory Factor 6 Gene Polymorphism and Nonsyndromic Cleft Palate Risk.

Xing Y et al.

Genetic Testing and Molecular Biomarkers, 2019

MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Suzuki A et al.

Bmc Medical Genomics, 2019

31262291 (PubMed )
Supplement: 12920_2019_546_MOESM3_ESM.xlsx › Significant

Association Studies Between Regulatory Regions of IRF6/TP63 Genes and Nonsyndromic Oral Clefts.

Wu-Chou YH et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2019

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

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

The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.

Kousa YA et al.

Human Molecular Genetics, 2019

Novel mutations of IRF6 gene in Taiwanese Van der Woude syndrome patients.

Wang TJ et al.

Pediatrics and Neonatology, 2019

Interaction between interferon regulatory factor 6 and glycine receptor beta shows a protective effect on developing nonsyndromic cleft lip with or without cleft palate in the Han Chinese population.

Wu D et al.

European Journal of Oral Sciences, 2019

Genetic heterogeneity in Van der Woude syndrome: identification of NOL4 and IRF6 haplotype from the noncoding region as candidates in two families.

Kumari PK et al.

Journal of Genetics, 2018

Interferon regulatory factor 6 variants affect nasolabial morphology in East Asian populations.

Tomita D et al.

Archives of Oral Biology, 2018

Genetic analysis of IRF6, a gene involved in craniofacial midline formation, in relation to pituitary and facial morphology of patients with idiopathic growth hormone deficiency.

Starink E et al.

Pituitary, 2017

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

Li EB et al.

Plos Genetics, 2017

Study of IRF6 and 8q24 region in non-syndromic oral clefts in the Brazilian population.

de Souza LT et al.

Oral Diseases, 2016

Toward an orofacial gene regulatory network.

Kousa YA et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2016

A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.

de Araujo TK et al.

Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-maxillo-facial Surgery, 2016

IRF6 Is a Marker of Severity in Nonsyndromic Cleft Lip/Palate.

Kerameddin S et al.

Journal of Dental Research, 2015

[Relationship between genetic polymorphisms of IRF6 rs642961 and nonsysdromic cleft lip with or without cleft palate].

Tian J et al.

Wei Sheng Yan Jiu = Journal of Hygiene Research, 2015

IRF6 polymorphisms in Mexican patients with non-syndromic cleft lip.

Ibarra-Arce A et al.

Meta Gene, 2015

Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population.

Nouri N et al.

Clinical Oral Investigations, 2015

Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians.

Figueiredo JC et al.

American Journal of Medical Genetics. Part A, 2014

Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.

Pegelow M et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2014

Association between interferon regulatory factor 6 gene polymorphisms and nonsyndromic cleft lip with or without cleft palate in a chinese population.

Zhou Q et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2013

[Association between single nucleotide polymorphism in Wnt3 and nonsyndromic cleft lip with or without cleft palate in Hui and Han population of Ningxia Autonomous Region].

Xin Y et al.

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2013

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

A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts.

Wu-Chou YH et al.

Bmc Medical Genetics, 2013

TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China.

Lu Y et al.

Plos One, 2013

Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: evidence from 20 studies.

Wang M et al.

American Journal of Medical Genetics. Part A, 2012

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population.

Brito LA et al.

American Journal of Medical Genetics. Part A, 2012

Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts.

Letra A et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012

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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."