Varaico: Literature-Extracted Genetic Variants

Gene:NFKB1
Variant:p.C88Y
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NFKB1

NM_003998.4:p.C88Y

Associated Papers

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

Li J et al.

The Journal of Experimental Medicine, 2021

34473196 (PubMed )
Supplement: JEM_20210566_TableS1.xlsx › Table_S1

Low TNF-induced NF-kappaB and p38 phosphorylation levels in leucocytes in tumour necrosis factor receptor-associated periodic syndrome.

Stjernberg-Salmela S et al.

Rheumatology (oxford, England), 2010

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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."