Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.Q2423delFs
Back to variants list

FLG

NM_002016.2:p.Q2423delFs

Associated Papers

Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitis.

Clabbers J et al.

The Journal of Allergy and Clinical Immunology, 2024

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

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
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."