Varaico: Literature-Extracted Genetic Variants

Gene:IFIH1
Variant:p.A589fs
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IFIH1

NM_022168.4:p.A589fs

Associated Papers

How loss-of-function mutations in IFIH1 contribute to infectious and/or inflammatory disease - a systematic review.

Ince I et al.

Journal of Translational Autoimmunity, 2026

Exome sequencing reveals rare loss-of-function mutations in FLG and immune genes in patients with multiple food allergies.

Khanshour AM et al.

The Journal of Allergy and Clinical Immunology, 2026

A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.

Lamilla J et al.

Diagnostics (basel, Switzerland), 2025

39941308 (PubMed )
Supplement: diagnostics-15-00376-s001.zip › diagnostics-3372801-supplementary.xlsx › Hoja1

IFIH1 loss of function predisposes to inflammatory and SARS-CoV-2-related infectious diseases.

Najm R et al.

Scandinavian Journal of Immunology, 2024

The genomic landscape of pediatric rheumatology disorders in the Middle East.

Fathalla BM et al.

Human Mutation, 2021

Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.

Bao C et al.

Frontiers in Oncology, 2021

34221990 (PubMed )
Supplement: Table_10.xlsx › Table_S10

Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.

Wu RC et al.

Cold Spring Harbor Molecular Case Studies, 2017

29162652 (PubMed )
Supplement: supp_mcs.a001693_Supplemental_Table_3.xlsx › mutations_
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