Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R28C
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BTK

NM_000061.3:p.R28C

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Two-Step Mechanism of Bruton's Tyrosine Kinase Membrane Recruitment and Activation.

McAllister RA et al.

Biorxiv : the Preprint Server for Biology, 2025

Clinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older.

Chin AT et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

EBV-Driven HLH and T Cell Lymphoma in a Child with X-Linked Agammaglobulinemia: A Genetically Confirmed Case Report and Literature Review.

Perez-Olais JH et al.

Journal of Personalized Medicine, 2025

40863427 (PubMed )
Supplement: jpm-15-00365-s001.zip › jpm-3708733-supplementary.pdf

Bruton's tyrosine kinase (BTK) and matrix metalloproteinase-9 (MMP-9) regulate NLRP3 inflammasome-dependent cytokine and neutrophil extracellular trap responses in primary neutrophils.

Leal VNC et al.

The Journal of Allergy and Clinical Immunology, 2025

Nephrotic Syndrome and Recurrent Infection.

Shahraki Ghadimi Z et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2024

Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.

Del Pino-Molina L et al.

Frontiers in Immunology, 2023

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_1.xlsx › Suppl_table_1

Novel mutations in hyper-IgM syndrome type 2 and X-linked agammaglobulinemia detected in three patients with primary immunodeficiency disease.

Chen X et al.

Molecular Genetics & Genomic Medicine, 2021

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Rojas-Restrepo J et al.

Frontiers in Immunology, 2021

Noncatalytic Bruton's tyrosine kinase activates PLCγ2 variants mediating ibrutinib resistance in human chronic lymphocytic leukemia cells.

Wist M et al.

The Journal of Biological Chemistry, 2020

Bruton tyrosine kinase deficiency augments NLRP3 inflammasome activation and causes IL-1β-mediated colitis.

Mao L et al.

The Journal of Clinical Investigation, 2020

X-Linked Immunodeficient Mice With No Functional Bruton's Tyrosine Kinase Are Protected From Sepsis-Induced Multiple Organ Failure.

O'Riordan CE et al.

Frontiers in Immunology, 2020

Systematics for types and effects of DNA variations.

Vihinen M

Bmc Genomics, 2018

Kappa-deleting recombination excision circle levels remain low or undetectable throughout life in patients with X-linked agammaglobulinemia.

King J et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2018

Molecular characterization and function analysis of grouper (Epinephelus coioides) Bruton's tyrosine kinase BTK.

Mo ZQ et al.

Fish & Shellfish Immunology, 2018

2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2018

Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.

Carrillo-Tapia E et al.

Expert Review of Clinical Immunology, 2018

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Al-Herz W et al.

Frontiers in Immunology, 2018

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.

Grodecká L et al.

Clinical Immunology (orlando, Fla.), 2017

Ibrutinib inhibition of Bruton protein-tyrosine kinase (BTK) in the treatment of B cell neoplasms.

Roskoski R

Pharmacological Research, 2016

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).

Chen XF et al.

Medicine, 2016

The role of Bruton's tyrosine kinase in autoimmunity and implications for therapy.

Crofford LJ et al.

Expert Review of Clinical Immunology, 2016

X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.

Aadam Z et al.

Journal of Clinical Immunology, 2016

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.

Abolhassani H et al.

Expert Review of Clinical Immunology, 2016

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

Autoinhibition of Bruton's tyrosine kinase (Btk) and activation by soluble inositol hexakisphosphate.

Wang Q et al.

Elife, 2015

Lipid and Protein Co-Regulation of PI3K Effectors Akt and Itk in Lymphocytes.

Wang X et al.

Frontiers in Immunology, 2015

Bruton's tyrosine kinase--an integral protein of B cell development that also has an essential role in the innate immune system.

López-Herrera G et al.

Journal of Leukocyte Biology, 2014

[Detection of Bruton's tyrosine kinase gene mutations and clinical analysis of 6 patients with X-linked agammaglobulinemia].

Zhang X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014

Dual phosphorylation of Btk by Akt/protein kinase b provides docking for 14-3-3ζ, regulates shuttling, and attenuates both tonic and induced signaling in B cells.

Mohammad DK et al.

Molecular and Cellular Biology, 2013

Signaling of the ITK (interleukin 2-inducible T cell kinase)-SYK (spleen tyrosine kinase) fusion kinase is dependent on adapter SLP-76 and on the adapter function of the kinases SYK and ZAP70.

Hussain A et al.

The Journal of Biological Chemistry, 2013

Bruton's tyrosine kinase mediates the synergistic signalling between TLR9 and the B cell receptor by regulating calcium and calmodulin.

Kenny EF et al.

Plos One, 2013

Molecular dynamic simulation to explore the molecular basis of Btk-PH domain interaction with Ins(1,3,4,5)P4.

Lu D et al.

Thescientificworldjournal, 2013

Colonel Bruton's kinase defined the molecular basis of X-linked agammaglobulinemia, the first primary immunodeficiency.

Khan WN

Journal of Immunology (baltimore, Md. : 1950), 2012

The role of the tec kinase Bruton's tyrosine kinase (Btk) in leukocyte recruitment.

Block H et al.

International Reviews of Immunology, 2012

Biology and novel treatment options for XLA, the most common monogenetic immunodeficiency in man.

Hendriks RW et al.

Expert Opinion on Therapeutic Targets, 2011

Btk is a positive regulator in the TREM-1/DAP12 signaling pathway.

Ormsby T et al.

Blood, 2011

Bruton's tyrosine kinase is required for TLR-dependent heme oxygenase-1 gene activation via Nrf2 in macrophages.

Vijayan V et al.

Journal of Immunology (baltimore, Md. : 1950), 2011

TEC family kinases in health and disease--loss-of-function of BTK and ITK and the gain-of-function fusions ITK-SYK and BTK-SYK.

Hussain A et al.

The Febs Journal, 2011

Elevated cytokine production restores bone resorption by human Btk-deficient osteoclasts.

Danks L et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011

Molecular characterization of Bruton's tyrosine kinase deficiency in 12 Iranian patients with presumed X-linked agammaglobulinemia.

Nasseri S et al.

Journal of Investigational Allergology & Clinical Immunology, 2011

B cells delay neutrophil migration toward the site of stimulus: tardiness critical for effective bacillus Calmette-Guérin vaccination against tuberculosis infection in mice.

Kondratieva TK et al.

Journal of Immunology (baltimore, Md. : 1950), 2010

Characterization of a novel interaction between transcription factor TFII-I and the inducible tyrosine kinase in T cells.

Sacristán C et al.

European Journal of Immunology, 2009

Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.

Wang Y et al.

Journal of Clinical Immunology, 2009

Bruton's tyrosine kinase (Btk): function, regulation, and transformation with special emphasis on the PH domain.

Mohamed AJ et al.

Immunological Reviews, 2009

Btk regulates B cell receptor-mediated antigen processing and presentation by controlling actin cytoskeleton dynamics in B cells.

Sharma S et al.

Journal of Immunology (baltimore, Md. : 1950), 2009

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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."