Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.R30Q
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CARD11

NM_032415.7:p.R30Q

Associated Papers

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.

Marti S et al.

Hemasphere, 2025

40510848 (PubMed )
Supplement: HEM3-9-e70150-s002.xlsx › S1

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

Zhao P et al.

Scientific Reports, 2024

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

Multiplexed Functional Assessment of Genetic Variants in CARD11.

Meitlis I et al.

American Journal of Human Genetics, 2020

33202260 (PubMed )
Supplement: mmc7.xlsx › dmso___LOF_screen__

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

Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Gopal RK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

29915083 (PubMed )
Supplement: pnas.1711888115.sd01.xlsx › Exome_Variants
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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."