Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.A582V
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BTK

NM_000061.3:p.A582V

Associated Papers

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

Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Ruiz-Pesini E et al.

Genes, 2021

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

The energy landscape analysis of cancer mutations in protein kinases.

Dixit A et al.

Plos One, 2011

21998754 (PubMed )
Supplement: pone.0026071.s009.doc

Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.

Kanegane H et al.

The Journal of Allergy and Clinical Immunology, 2001

Crystal structure of Bruton's tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia.

Mao C et al.

The Journal of Biological Chemistry, 2001

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

Vorechovský I et al.

Human Mutation, 1997

Structural basis for X-linked agammaglobulinemia (XLA): mutations at interacting Btk residues R562, W563, and A582.

Maniar HS et al.

Clinical Immunology and Immunopathology, 1995

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.

Vorechovský I et al.

Human Molecular Genetics, 1995

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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."