Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.F540S
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BTK

NM_000061.3:p.F540S

Associated Papers

KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily.

Pons T et al.

Bmc Genomics, 2016

27357839 (PubMed )
Supplement: 12864_2016_2723_MOESM3_ESM.xlsx › Sheet1

Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.

Väliaho J et al.

Human Mutation, 2015

Naturally occurring Bruton's tyrosine kinase mutations have no dominant negative effect in an X-linked agammaglobulinaemia cellular model.

Pérez de Diego R et al.

Clinical and Experimental Immunology, 2008

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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."