Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.K430R
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BTK

NM_000061.3:p.K430R

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Grb2

Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node.

Xia Y et al.

Frontiers in Immunology, 2025

The Evolving Role of Bruton's Tyrosine Kinase Inhibitors in B Cell Lymphomas.

Mehra S et al.

International Journal of Molecular Sciences, 2024

Kinase-impaired BTK mutations are susceptible to clinical-stage BTK and IKZF1/3 degrader NX-2127.

Montoya S et al.

Science (new York, N.y.), 2024

Screening and Characterization of Allosteric Small Molecules Targeting Bruton's Tyrosine Kinase.

Kueffer LE et al.

Biochemistry, 2024

Conformational heterogeneity of the BTK PHTH domain drives multiple regulatory states.

Lin DY et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Chirino A et al.

Genes, 2023

Acquired BTK mutations associated with resistance to noncovalent BTK inhibitors.

Qi J et al.

Blood Advances, 2023

Structure of BTK kinase domain with the second-generation inhibitors acalabrutinib and tirabrutinib.

Lin DY et al.

Plos One, 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

Follicular Lymphoma-associated BTK Mutations are Inactivating Resulting in Augmented AKT Activation.

Hu N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up.

Yıldırım İ et al.

American Journal of Clinical and Experimental Immunology, 2021

Erratum: X-linked agammaglobulinemia: investigation of clinical and laboratory findings, novel gene mutations and prevention of infective complications in long-term follow-up.

Yıldırım İ et al.

American Journal of Clinical and Experimental Immunology, 2021

T-cell expression of Bruton's tyrosine kinase promotes autoreactive T-cell activation and exacerbates aplastic anemia.

Xia S et al.

Cellular & Molecular Immunology, 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

Lipid-targeting pleckstrin homology domain turns its autoinhibitory face toward the TEC kinases.

Amatya N et al.

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

31591208 (PubMed )
Supplement: pnas.1907566116.sapp.pdf

Substitution scanning identifies a novel, catalytically active ibrutinib-resistant BTK cysteine 481 to threonine (C481T) variant.

Hamasy A et al.

Leukemia, 2017

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

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

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

Activation loop dynamics determine the different catalytic efficiencies of B cell- and T cell-specific tec kinases.

Joseph RE et al.

Science Signaling, 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

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

Hendriks RW et al.

Expert Opinion on Therapeutic Targets, 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

The energy landscape analysis of cancer mutations in protein kinases.

Dixit A et al.

Plos One, 2011

21998754 (PubMed )
Supplement: pone.0026071.s009.doc

Chronic active B-cell-receptor signalling in diffuse large B-cell lymphoma.

Davis RE et al.

Nature, 2010

Signaling by Toll-like receptors 8 and 9 requires Bruton's tyrosine kinase.

Doyle SL et al.

The Journal of Biological Chemistry, 2007

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

Mutational analysis of the SH2-kinase linker region of Bruton's tyrosine kinase defines alternative modes of regulation for cytoplasmic tyrosine kinase families.

Guo S et al.

International Immunology, 2006

Bruton's tyrosine kinase is involved in p65-mediated transactivation and phosphorylation of p65 on serine 536 during NFkappaB activation by lipopolysaccharide.

Doyle SL et al.

The Journal of Biological Chemistry, 2005

Tec kinases mediate sustained calcium influx via site-specific tyrosine phosphorylation of the phospholipase Cgamma Src homology 2-Src homology 3 linker.

Humphries LA et al.

The Journal of Biological Chemistry, 2004

Btk is required for an efficient response to erythropoietin and for SCF-controlled protection against TRAIL in erythroid progenitors.

Schmidt U et al.

The Journal of Experimental Medicine, 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

Conformation of full-length Bruton tyrosine kinase (Btk) from synchrotron X-ray solution scattering.

Márquez JA et al.

The Embo Journal, 2003

Bruton's tyrosine kinase is a Toll/interleukin-1 receptor domain-binding protein that participates in nuclear factor kappaB activation by Toll-like receptor 4.

Jefferies CA et al.

The Journal of Biological Chemistry, 2003

Crystal structure of Bruton's tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia.

Mao C et al.

The Journal of Biological Chemistry, 2001

Four tyrosine residues in phospholipase C-gamma 2, identified as Btk-dependent phosphorylation sites, are required for B cell antigen receptor-coupled calcium signaling.

Watanabe D et al.

The Journal of Biological Chemistry, 2001

PKCbeta modulates antigen receptor signaling via regulation of Btk membrane localization.

Kang SW et al.

The Embo Journal, 2001

Identification and characterization of a molecule, BAM11, that associates with the pleckstrin homology domain of mouse Btk.

Kikuchi Y et al.

International Immunology, 2000

Pleckstrin homology domains interact with filamentous actin.

Yao L et al.

The Journal of Biological Chemistry, 1999

Involvement of Bruton's tyrosine kinase in FcepsilonRI-dependent mast cell degranulation and cytokine production.

Hata D et al.

The Journal of Experimental Medicine, 1998

Phosphatidylinositol-3,4,5-trisphosphate (PtdIns-3,4,5-P3)/Tec kinase-dependent calcium signaling pathway: a target for SHIP-mediated inhibitory signals.

Scharenberg AM et al.

The Embo Journal, 1998

Btk/Tec kinases regulate sustained increases in intracellular Ca2+ following B-cell receptor activation.

Fluckiger AC et al.

The Embo Journal, 1998

Constitutive membrane association potentiates activation of Bruton tyrosine kinase.

Li T et al.

Oncogene, 1997

Regulation of Btk function by a major autophosphorylation site within the SH3 domain.

Park H et al.

Immunity, 1996

Activation of Bruton's tyrosine kinase (BTK) by a point mutation in its pleckstrin homology (PH) domain.

Li T et al.

Immunity, 1995

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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."