Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R307T
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BTK

NM_000061.3:p.R307T

Associated Papers

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

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

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

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

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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."