Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.W581R
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BTK

NM_000061.3:p.W581R

Associated Papers

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

[Late diagnosis of WHIM sydrome].

Paolini MV et al.

Medicina, 2018

wKinMut-2: Identification and Interpretation of Pathogenic Variants in Human Protein Kinases.

Vazquez M et al.

Human Mutation, 2016

26443060 (PubMed )
Supplement: supplement_1.pdf

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 molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.

Basile N et al.

Journal of Clinical Immunology, 2009

Bruton tyrosine kinase gene mutations in Argentina.

Danielian S et al.

Human Mutation, 2003

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

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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."