Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.E121D
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CARD11

NM_032415.7:p.E121D

Associated Papers

BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review.

Baldini L et al.

Immunology Letters, 2025

Successful Treatment with Sirolimus of a Patient with a Novel CARD11 Germline Mutation in B-Cell Expansion with Nuclear Factor Kappa B and T-Cell Anergy: Case Report and Literature Review.

Nishinosono T et al.

Journal of Clinical Immunology, 2025

39998705 (PubMed )
Supplement: 10875_2025_1872_MOESM1_ESM.docx

Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease.

Bauman BM et al.

Clinical Immunology (orlando, Fla.), 2023

MAPK and JAK-STAT pathways dysregulation in plasmablastic lymphoma.

Ramis-Zaldivar JE et al.

Haematologica, 2021

33951889 (PubMed )
Supplement: 2020_271957_RAMIS-ZALDIVAR_SUPPL_TableS5.xlsx › 194_Mutations
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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."