Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R288Q
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BTK

NM_000061.3:p.R288Q

Associated Papers

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

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

Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.

Al-Tamemi S et al.

Journal of Clinical Immunology, 2023

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

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

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

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Kwon WK et al.

Allergy, Asthma & Immunology Research, 2020

Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.

Rawat A et al.

Frontiers in Immunology, 2020

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.

Mensa-Vilaró A et al.

The Journal of Allergy and Clinical Immunology, 2019

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.

Esenboga S et al.

Scandinavian Journal of 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

[Late diagnosis of WHIM sydrome].

Paolini MV et al.

Medicina, 2018

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

Chen XF et al.

Medicine, 2016

Clinical and mutational features of X-linked agammaglobulinemia in Mexico.

García-García E et al.

Clinical Immunology (orlando, Fla.), 2016

Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Creixell P et al.

Cell, 2015

26388441 (PubMed )
Supplement: mmc9.xlsx › COSMIC_v67MappedToEnsembl_right

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

[X-linked agammaglobulinemia: experience in a Portuguese hospital].

Fernandes A et al.

Anales De Pediatria (barcelona, Spain : 2003), 2015

Membranoproliferative glomerulonephritis and x-linked agammaglobulinemia: an uncommon association.

Lavrador V et al.

Case Reports in Pediatrics, 2014

Coding-region alterations in BTK do not universally cause X-linked agammaglobulinemia.

Abbott JK et al.

The Journal of Allergy and Clinical Immunology, 2013

Phylogenetic Profiles Reveal Structural and Functional Determinants of Lipid-binding.

Hong Y et al.

Journal of Proteomics & Bioinformatics, 2009

Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.

Basile N et al.

Journal of Clinical Immunology, 2009

Genome wide analysis of pathogenic SH2 domain mutations.

Lappalainen I et al.

Proteins, 2008

Solution structure and phosphopeptide binding of the SH2 domain from the human Bruton's tyrosine kinase.

Huang KC et al.

Journal of Biomolecular Nmr, 2006

BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.

Fiorini M et al.

Human Mutation, 2004

Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia.

Tzeng SR et al.

Protein Science : a Publication of the Protein Society, 2000

Genotype/phenotype correlations in X-linked agammaglobulinemia.

Broides A et al.

Clinical Immunology (orlando, Fla.), 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."