Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.K430E
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BTK

NM_000061.3:p.K430E

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

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

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

BTK kinase activity is dispensable for the survival of diffuse large B-cell lymphoma.

Yuan H et al.

The Journal of Biological Chemistry, 2022

BTK operates a phospho-tyrosine switch to regulate NLRP3 inflammasome activity.

Bittner ZA et al.

The Journal of Experimental Medicine, 2021

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

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

Mao L et al.

The Journal of Clinical Investigation, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

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

KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily.

Pons T et al.

Bmc Genomics, 2016

27357839 (PubMed )
Supplement: 12864_2016_2723_MOESM3_ESM.xlsx › Sheet1

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

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

Ormsby T et al.

Blood, 2011

Characterization of pathogenic germline mutations in human protein kinases.

Izarzugaza JM et al.

Bmc Bioinformatics, 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

Naturally occurring Bruton's tyrosine kinase mutations have no dominant negative effect in an X-linked agammaglobulinaemia cellular model.

Pérez de Diego R 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

A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.

López-Granados E et al.

The Journal of Allergy and Clinical Immunology, 2005

Mechanism of Bruton's tyrosine kinase-mediated recruitment and regulation of TFII-I.

Sacristán C et al.

The Journal of Biological Chemistry, 2004

Bruton's tyrosine kinase phosphorylates cAMP-responsive element-binding protein at serine 133 during neuronal differentiation in immortalized hippocampal progenitor cells.

Yang EJ et al.

The Journal of Biological Chemistry, 2004

Phosphorylation of Bruton's tyrosine kinase by c-Abl.

Bäckesjö CM et al.

Biochemical and Biophysical Research Communications, 2002

Functional interaction of caveolin-1 with Bruton's tyrosine kinase and Bmx.

Vargas L et al.

The Journal of Biological Chemistry, 2002

The clinical spectrum of Bruton's agammaglobulinemia.

Stewart DM et al.

Current Allergy and Asthma Reports, 2001

Biochemistry and biology of the inducible multifunctional transcription factor TFII-I.

Roy AL

Gene, 2001

Identification of phosphorylation sites for Bruton's tyrosine kinase within the transcriptional regulator BAP/TFII-I.

Egloff AM et al.

The Journal of Biological Chemistry, 2001

Molecular analysis of Bruton's tyrosine kinase gene in Spain.

Rodríguez MC et al.

Human Mutation, 2001

Nucleocytoplasmic shuttling of Bruton's tyrosine kinase.

Mohamed AJ et al.

The Journal of Biological Chemistry, 2000

Redistribution of Bruton's tyrosine kinase by activation of phosphatidylinositol 3-kinase and Rho-family GTPases.

Nore BF et al.

European Journal of Immunology, 2000

[Neutropenia as early manifestation of X-linked agammaglobulinemia. Report on 4 patients].

Plo Rodríguez F et al.

Anales Espanoles De Pediatria, 1999

Regulation of nuclear localization and transcriptional activity of TFII-I by Bruton's tyrosine kinase.

Novina CD et al.

Molecular and Cellular Biology, 1999

X-linked agammaglobulinemia (XLA): a genetic tyrosine kinase (Btk) disease.

Mattsson PT et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 1996

An SH3-binding site conserved in Bruton's tyrosine kinase and related tyrosine kinases mediates specific protein interactions in vitro and in vivo.

Yang W et al.

The Journal of Biological Chemistry, 1995

X-linked agammaglobulinemia and other immunoglobulin deficiencies.

Smith CI et al.

Immunological Reviews, 1994

[Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers].

Matos-Benavides E et al.

Revista Peruana De Medicina Experimental Y Salud Publica, 0

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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."