Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.G302E
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BTK

NM_000061.3:p.G302E

Associated Papers

Novel deletion mutation in Bruton's tyrosine kinase results in X-linked agammaglobulinemia: A case report.

Hu XM et al.

World Journal of Clinical Cases, 2020

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 of pathogenic SH2 domain mutations.

Lappalainen I et al.

Proteins, 2008

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

Fiorini M et al.

Human Mutation, 2004

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

Vihinen M et al.

Frontiers in Bioscience : a Journal and Virtual Library, 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

Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.

Hashimoto S et al.

Blood, 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."