Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R307G
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BTK

NM_000061.3:p.R307G

Associated Papers

Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia.

Blom M et al.

Journal of Clinical Immunology, 2025

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

CoDIAC: A comprehensive approach for interaction analysis reveals novel insights into SH2 domain function and regulation.

Kandoor A et al.

Biorxiv : the Preprint Server for Biology, 2025

39091881 (PubMed )
Supplement: media-5.xlsx › B.Mutation_classification

Btk SH2-kinase interface is critical for allosteric kinase activation and its targeting inhibits B-cell neoplasms.

Duarte DP et al.

Nature Communications, 2020

The Src module: an ancient scaffold in the evolution of cytoplasmic tyrosine kinases.

Shah NH et al.

Critical Reviews in Biochemistry and Molecular Biology, 2018

X-linked agammaglobulinemia associated with B-precursor acute lymphoblastic leukemia.

Hoshino A et al.

Journal of Clinical Immunology, 2015

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

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

Bruton tyrosine kinase gene mutations in Argentina.

Danielian S et al.

Human Mutation, 2003

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

Bäckesjö CM et al.

Biochemical and Biophysical Research Communications, 2002

Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA).

Vihinen M et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2000

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

Structure-function effects in primary immunodeficiencies.

Korpi M et al.

Scandinavian Journal of Immunology, 2000

Six X-linked agammaglobulinemia-causing missense mutations in the Src homology 2 domain of Bruton's tyrosine kinase: phosphotyrosine-binding and circular dichroism analysis.

Mattsson PT et al.

Journal of Immunology (baltimore, Md. : 1950), 2000

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.

Vorechovský I et al.

Human Mutation, 1997

Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.

Schuster V et al.

American Journal of Medical Genetics, 1996

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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."