Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.E41K
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BTK

NM_000061.3:p.E41K

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL.

Rivas-Delgado A et al.

Hemasphere, 2024

39380845 (PubMed )
Supplement: HEM3-8-e70024-s001.xlsx › ST7

Mutational profile in previously treated patients with chronic lymphocytic leukemia progression on acalabrutinib or ibrutinib.

Woyach JA et al.

Blood, 2024

E41K mutation activates Bruton's tyrosine kinase by stabilizing an inositol hexakisphosphate-dependent invisible dimer.

Chowdhury S et al.

The Journal of Biological Chemistry, 2024

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

Absence of BTK, BCL2, and PLCG2 Mutations in Chronic Lymphocytic Leukemia Relapsing after First-Line Treatment with Fixed-Duration Ibrutinib plus Venetoclax.

Jain N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Resisting the Resistance: Navigating BTK Mutations in Chronic Lymphocytic Leukemia (CLL).

Chirino A et al.

Genes, 2023

Pleckstrin Homology [PH] domain, structure, mechanism, and contribution to human disease.

Powis G et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

Molecular associations of response to the new-generation BTK inhibitor zanubrutinib in marginal zone lymphoma.

Tatarczuch M et al.

Blood Advances, 2023

Orally bioavailable BTK PROTAC active against wild-type and C481 mutant BTKs in human lymphoma CDX mouse models.

Lim YS et al.

Blood Advances, 2023

Bruton's tyrosine kinase phosphorylates scaffolding and RNA-binding protein G3BP1 to induce stress granule aggregation during host sensing of foreign ribonucleic acids.

Kim SS et al.

The Journal of Biological Chemistry, 2022

PON-All: Amino Acid Substitution Tolerance Predictor for All Organisms.

Yang Y et al.

Frontiers in Molecular Biosciences, 2022

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

Mobocertinib (TAK-788): A Targeted Inhibitor of EGFR Exon 20 Insertion Mutants in Non-Small Cell Lung Cancer.

Gonzalvez F et al.

Cancer Discovery, 2021

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Novel BCL2 mutations in venetoclax-resistant, ibrutinib-resistant CLL patients with BTK/PLCG2 mutations.

Lucas F et al.

Blood, 2020

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

Development of a Model for Chemical Screening Based on Collateral Sensitivity to Target BTK C481S Mutant.

Libre C et al.

Cancers, 2020

Noncovalent inhibitors reveal BTK gatekeeper and auto-inhibitory residues that control its transforming activity.

Wang S et al.

Jci Insight, 2019

Structural mechanism for Bruton's tyrosine kinase activation at the cell membrane.

Wang Q et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Identification of Distinct Unmutated Chronic Lymphocytic Leukemia Subsets in Mice Based on Their T Cell Dependency.

Pal Singh S et al.

Frontiers in Immunology, 2018

PLCG2 C2 domain mutations co-occur with BTK and PLCG2 resistance mutations in chronic lymphocytic leukemia undergoing ibrutinib treatment.

Jones D et al.

Leukemia, 2017

Bruton's tyrosine kinase phosphorylates DDX41 and activates its binding of dsDNA and STING to initiate type 1 interferon response.

Lee KG et al.

Cell Reports, 2015

Are patients with X-linked agammaglobulinemia at increased risk of developing acute lymphoblastic leukemia?

Conley ME

Journal of Clinical Immunology, 2015

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

Wang X et al.

Frontiers in Immunology, 2015

Calmodulin and PI(3,4,5)P₃ cooperatively bind to the Itk pleckstrin homology domain to promote efficient calcium signaling and IL-17A production.

Wang X et al.

Science Signaling, 2014

DOK3 is required for IFN-β production by enabling TRAF3/TBK1 complex formation and IRF3 activation.

Kim SS et al.

Journal of Immunology (baltimore, Md. : 1950), 2014

Pre-B cell receptor signaling induces immunoglobulin κ locus accessibility by functional redistribution of enhancer-mediated chromatin interactions.

Stadhouders R et al.

Plos Biology, 2014

Agammaglobulinemia: causative mutations and their implications for novel therapies.

Berglöf A et al.

Expert Review of Clinical Immunology, 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

Bruton's tyrosine kinase phosphorylates Toll-like receptor 3 to initiate antiviral response.

Lee KG et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

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

Block H et al.

International Reviews of Immunology, 2012

The GRP1 PH domain, like the AKT1 PH domain, possesses a sentry glutamate residue essential for specific targeting to plasma membrane PI(3,4,5)P(3).

Pilling C et al.

Biochemistry, 2011

Agammaglobulinemia associated with BCR⁻ B cells and enhanced expression of CD19.

Dobbs AK et al.

Blood, 2011

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

Constitutive activation of Bruton's tyrosine kinase induces the formation of autoreactive IgM plasma cells.

Kersseboom R et al.

European Journal of Immunology, 2010

B cell-specific lentiviral gene therapy leads to sustained B-cell functional recovery in a murine model of X-linked agammaglobulinemia.

Kerns HM et al.

Blood, 2010

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

Mohamed AJ et al.

Immunological Reviews, 2009

Proteasome-dependent autoregulation of Bruton tyrosine kinase (Btk) promoter via NF-kappaB.

Yu L et al.

Blood, 2008

A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.

Conley ME et al.

Clinical and Experimental Immunology, 2008

Regulation of Bruton tyrosine kinase by the peptidylprolyl isomerase Pin1.

Yu L et al.

The Journal of Biological Chemistry, 2006

Bruton's tyrosine kinase and SLP-65 regulate pre-B cell differentiation and the induction of Ig light chain gene rearrangement.

Kersseboom R et al.

Journal of Immunology (baltimore, Md. : 1950), 2006

Functional replacement of Drosophila Btk29A with human Btk in male genital development and survival.

Hamada N et al.

Febs Letters, 2005

Cellular maturation defects in Bruton's tyrosine kinase-deficient immature B cells are amplified by premature B cell receptor expression and reduced by receptor editing.

Middendorp S et al.

Journal of Immunology (baltimore, Md. : 1950), 2004

Function of Bruton's tyrosine kinase during B cell development is partially independent of its catalytic activity.

Middendorp S et al.

Journal of Immunology (baltimore, Md. : 1950), 2003

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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."