Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.Q287*
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IRF6

NM_006147.4:p.Q287*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

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

Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.

Liu H et al.

Human Molecular Genetics, 2016

26692521 (PubMed )
Supplement: supp_ddv614_ddv614supp_table2.xlsx › Sheet1

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
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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."