Varaico: Literature-Extracted Genetic Variants

Gene:NFKB1
Variant:p.H67Y
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NFKB1

NM_003998.4:p.H67Y

Associated Papers

Compound heterozygous NFKB1 missense variants in cis associated with immunodeficiency.

Fliegauf M et al.

Clinical Immunology (orlando, Fla.), 2026

Genetics Abnormalities with Clinical Impact in Primary Cutaneous Lymphomas.

Gallardo F et al.

Cancers, 2022

Genomic Aberrations Generate Fusion Gene FOXK2::TP63 and Activate NFKB1 in Cutaneous T-Cell Lymphoma.

Nagel S et al.

Biomedicines, 2022

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.

Fliegauf M et al.

Frontiers in Immunology, 2022

36105815 (PubMed )
Supplement: DataSheet_1.pdf

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.

Li J et al.

The Journal of Experimental Medicine, 2021

Integrated genomic analyses of cutaneous T-cell lymphomas reveal the molecular bases for disease heterogeneity.

Park J et al.

Blood, 2021

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM5_ESM.xlsx › ANKL14
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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."