Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.Y97C
Back to variants list

IRF6

NM_006147.4:p.Y97C

Associated Papers

Distinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption.

Franco ALMM et al.

Computational and Structural Biotechnology Journal, 2025

DNA methylation differences in monozygotic twins with Van der Woude syndrome.

Petrin AL et al.

Frontiers in Dental Medicine, 2023

High-throughput functional evaluation of human cancer-associated mutations using base editors.

Kim Y et al.

Nature Biotechnology, 2022

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

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

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

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."