Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.T454A
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FLG

NM_002016.2:p.T454A

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.

Koo K et al.

Cancers, 2021

33804510 (PubMed )
Supplement: cancers-13-01029-s001.zip › Supplementary_Data.xlsx › Somatic_mutations

Missense, silent, non-sense and frame-shift mutations in exon 3 of the filaggrin gene in patients with bronchial asthma, atopic dermatitis, allergic rhinitis and mixed atopy.

Salama RH et al.

Nucleosides, Nucleotides & Nucleic Acids, 2021

Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients.

Hassani B et al.

International Journal of Dermatology, 2018

Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.

Kim M et al.

Plos One, 2017

29281699 (PubMed )
Supplement: pone.0190077.s002.xlsx › Sheet1

[Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris].

Zhang Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016

An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.

Park KY et al.

Journal of Korean Medical Science, 2016

27366014 (PubMed )
Supplement: jkms-31-1136-s001.pdf

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.

Kiritsi D et al.

The Journal of Allergy and Clinical Immunology, 2015

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

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Nasuno T et al.

Cancer Science, 2014

24219164 (PubMed )
Supplement: cas0105-0202-SD2.xlsx › TE1

Ichthyosis vulgaris: the filaggrin mutation disease.

Thyssen JP et al.

The British Journal of Dermatology, 2013

Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients.

Kim EJ et al.

Annals of Dermatology, 2011

Filaggrin polymorphism P478S, IgE level, and atopic phenotypes.

Wang IJ et al.

The British Journal of Dermatology, 2011

Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis.

Polcari I et al.

Pediatric Dermatology, 0

Prevalence of filaggrin gene polymorphisms (exon-3) in patients with atopic dermatitis in a multiracial Brazilian population.

Laczynski CMM et al.

Anais Brasileiros De Dermatologia, 0

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