Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.L251P
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CARD11

NM_032415.7:p.L251P

Associated Papers

A comprehensive benchmark for multiple highly efficient base editors with broad targeting scope.

Wang X et al.

Biorxiv : the Preprint Server for Biology, 2025

39763781 (PubMed )
Supplement: media-3.xlsx › ABE_screen_library

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

Identification of genetic subtypes in follicular lymphoma.

Shelton V et al.

Blood Cancer Journal, 2024

39112453 (PubMed )
Supplement: 41408_2024_1111_MOESM2_ESM.xlsx › ST5_-_mutations

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Schmidt A et al.

Nature Genetics, 2024

39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1

Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics.

Cao B et al.

Bmc Medical Genomics, 2024

38609996 (PubMed )
Supplement: 12920_2024_1866_MOESM1_ESM.pdf

CARD11 regulates the thymic Treg development in an NF-κB-independent manner.

Hu Y et al.

Frontiers in Immunology, 2024

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Genetic screening in a Brazilian cohort with inborn errors of immunity.

Ferreira CS et al.

Bmc Genomic Data, 2023

CARD11 gain-of-function mutation drives cell-autonomous accumulation of PD-1+ ICOShigh activated T cells, T-follicular, T-regulatory and T-follicular regulatory cells.

Masle-Farquhar E et al.

Frontiers in Immunology, 2023

Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.

Zhao M et al.

Frontiers in Genetics, 2023

37152994 (PubMed )
Supplement: Table3.XLSX › Raw_data

Personalized monitoring of circulating tumor DNA with a specific signature of trackable mutations after chimeric antigen receptor T-cell therapy in follicular lymphoma patients.

Jiménez-Ubieto A et al.

Frontiers in Immunology, 2023

37342332 (PubMed )
Supplement: Table_2.xlsx › Sheet1

Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Crouch S et al.

Blood Advances, 2022

35363872 (PubMed )
Supplement: BLOODA_ADV-2021-005284-mmc1.xlsx › S2_DLBCL_SNV

Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing.

Künstner A et al.

Haematologica, 2022

34788985 (PubMed )
Supplement: 2021_279631_KUNSTNER_TABS6_SUPPL.xlsx › Variants_Panel

Identification of a genetic signature enriching for response to ibrutinib in relapsed/refractory follicular lymphoma in the DAWN phase 2 trial.

Balasubramanian S et al.

Cancer Medicine, 2022

Integrating knowledge of protein sequence with protein function for the prediction and validation of new MALT1 substrates.

Bell PA et al.

Computational and Structural Biotechnology Journal, 2022

Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.

Bastos-Oreiro M et al.

Scientific Reports, 2021

Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Bruscaggin A et al.

Blood Advances, 2021

34500472 (PubMed )
Supplement: advancesADV2021004528-suppl2.xlsx › Table_S7

Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Pedrosa L et al.

Scientific Reports, 2021

33479306 (PubMed )
Supplement: 41598_2020_80376_MOESM1_ESM.xlsx › Table_S2._Mutational_data

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

Gain-of-function mutations in CARD11 promote enhanced aggregation and idiosyncratic signalosome assembly.

Stinson JR et al.

Cellular Immunology, 2020

Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma.

González-Rincón J et al.

Plos One, 2019

30802265 (PubMed )
Supplement: pone.0212813.s010.xlsx › Tabla_S4.SNV___Indel

Activated CARD11 accelerates germinal center kinetics, promoting mTORC1 and terminal differentiation.

Wray-Dutra MN et al.

The Journal of Experimental Medicine, 2018

Mechanisms of Regulated and Dysregulated CARD11 Signaling in Adaptive Immunity and Disease.

Bedsaul JR et al.

Frontiers in Immunology, 2018

The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.

Landau DA et al.

Nature Communications, 2017

Recurrent mutations in genes involved in nuclear factor-κB signalling in nodal marginal zone lymphoma-diagnostic and therapeutic implications.

van den Brand M et al.

Histopathology, 2017

Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.

Bouska A et al.

Leukemia, 2017

27389057 (PubMed )
Supplement: NIHMS790817-supplement-6.xlsx › Sheet1

Toward Personalized Lymphoma Immunotherapy: Identification of Common Driver Mutations Recognized by Patient CD8+ T Cells.

Nielsen JS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

26631611 (PubMed )
Supplement: 10780432ccr152023-sup-154478_1_supp_3198976_nwp36f.pdf

The mutational landscape of cutaneous T cell lymphoma and Sézary syndrome.

da Silva Almeida AC et al.

Nature Genetics, 2015

The three CARMA sisters: so different, so similar: a portrait of the three CARMA proteins and their involvement in human disorders.

Scudiero I et al.

Journal of Cellular Physiology, 2014

Human lymphoma mutations reveal CARD11 as the switch between self-antigen-induced B cell death or proliferation and autoantibody production.

Jeelall YS et al.

The Journal of Experimental Medicine, 2012

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Morin RD et al.

Nature, 2011

21796119 (PubMed )
Supplement: NIHMS313098-supplement-6.xls › table_1_validation_with_RNA_seq

A20, ABIN-1/2, and CARD11 mutations and their prognostic value in gastrointestinal diffuse large B-cell lymphoma.

Dong G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011

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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."