Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.K143*
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CARD11

NM_032415.7:p.K143*

Associated Papers

A novel CARD11 heterozygous missense variant in a CADINS patient.

AlYafie RS et al.

The Journal of Allergy and Clinical Immunology. Global, 2025

A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever.

Zhao P et al.

Scientific Reports, 2024

Dominant-negative CARD11 loss-of-function variant presenting with hypereosinophilic syndrome.

Wilson BE et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023

Hyper-IgE and Carcinoma in CADINS Disease.

Pietzsch L et al.

Frontiers in Immunology, 2022

A novel CARD11 germline mutation in a Chinese patient of B cell expansion with NF-κB and T cell anergy (BENTA) and literature review.

Zhao P et al.

Frontiers in Immunology, 2022

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.

Dorjbal B et al.

The Journal of Allergy and Clinical Immunology, 2019

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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."