Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.Q2417*
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FLG

NM_002016.2:p.Q2417*

Associated Papers

Phenotype-genotype correlation in a cohort of 15 patients with hereditary ichthyosis.

Ma YJ et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

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-escaping_mutations

Variants in the Gene Encoding Filaggrin Cause Autosomal-Dominant Symmetrical Acral Keratoderma.

Liu C et al.

The Journal of Investigative Dermatology, 2023

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

In silico analysis of the profilaggrin sequence indicates alterations in the stability, degradation route, and intracellular protein fate in filaggrin null mutation carriers.

Paul AA et al.

Frontiers in Molecular Biosciences, 2023

37200867 (PubMed )
Supplement: Table1.DOCX

Application of nanopore sequencing in identifying null mutations and intragenic copy number variations (CNVs) in FLG.

Lin YC et al.

Journal of Dermatological Science, 2022

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Factors associated with persistence of early-onset atopic dermatitis up to the age of 12 years: a prospective cohort study in China.

Zhang Z et al.

European Journal of Dermatology : Ejd, 2021

Targeted resequencing showing novel common and rare genetic variants increases the risk of asthma in the Chinese Han population.

Liu J et al.

Journal of Clinical Laboratory Analysis, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Prevalence of Filaggrin Gene R501X Mutation in Indian Children with Allergic Diseases.

Chauhan A et al.

Indian Journal of Pediatrics, 2020

Filaggrin gene mutations in hand eczema patients in the Indian subcontinent: A prospective case-control study.

Handa S et al.

Contact Dermatitis, 2019

Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris.

Gong L et al.

The Journal of Dermatology, 2019

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants.

Wong XFCC et al.

The Journal of Allergy and Clinical Immunology, 2018

Filaggrin Mutation in Korean Patients with Atopic Dermatitis.

On HR et al.

Yonsei Medical Journal, 2017

FLG mutations in the East Asian atopic dermatitis patients: genetic and clinical implication.

Li K et al.

Experimental Dermatology, 2016

Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations.

Park J et al.

The Journal of Dermatology, 2015

Filaggrin mutations in a Western siberian population and their association with atopic dermatitis in children.

Komova EG et al.

Genetic Testing and Molecular Biomarkers, 2014

Evidence That Loss-of-Function Filaggrin Gene Mutations Evolved in Northern Europeans to Favor Intracutaneous Vitamin D3 Production.

Thyssen JP et al.

Evolutionary Biology, 2014

Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV.

Li M et al.

The British Journal of Dermatology, 2013

Mutations analysis in filaggrin gene in northern China patients with atopic dermatitis.

Li M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013

Interactions between FLG mutations and allergens in atopic dermatitis.

Li M et al.

Archives of Dermatological Research, 2012

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population.

Hu Z et al.

Human Genetics, 2012

Filaggrin mutations associated with skin and allergic diseases.

Irvine AD et al.

The New England Journal of Medicine, 2011

[Association of filaggrin gene polymorphism with atopic dermatitis in southern Chinese Han population].

Li CX et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011

Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese.

Zhang H et al.

Allergy, 2011

Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations.

Chen H et al.

The British Journal of Dermatology, 2011

Filaggrin null mutations are not a protective factor for acne vulgaris.

Common JE et al.

The Journal of Investigative Dermatology, 2011

Filaggrin polymorphism P478S, IgE level, and atopic phenotypes.

Wang IJ et al.

The British Journal of Dermatology, 2011

Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis.

Zhang H et al.

Allergy, 2011

Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris.

Zhang X et al.

The British Journal of Dermatology, 2010

FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.

Akiyama M

The British Journal of Dermatology, 2010

Association analysis of filaggrin gene mutations and atopic dermatitis in Northern China.

Ma L et al.

The British Journal of Dermatology, 2010

FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema.

Nemoto-Hasebe I et al.

The British Journal of Dermatology, 2009

Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations.

Hsu CK et al.

The British Journal of Dermatology, 2009

[Eczema herpeticum in a patient with atopic dermatitis, carrying r501x and 2282del4 filaggrin null mutations].

Valdés-Rodríguez R et al.

Gaceta Medica De Mexico, 0

Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study.

Srinivas SM et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

Filaggrin Gene Mutation in Pediatric Patients with Atopic Dermatitis: A Look into Indian Gene Pool, a Pilot Study.

Rajeshwari KA et al.

Indian Journal of Dermatology, 0

Neonatal Filaggrin Genetic Screening and Counseling to Prevent Atopic Dermatitis in High-Risk Infants.

Chen HY et al.

Dermatitis : Contact, Atopic, Occupational, Drug, 0

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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."