Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.G414R
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BTK

NM_000061.3:p.G414R

Associated Papers

A mechanism for localized dynamics-driven activation in Bruton's tyrosine kinase.

Qiu S et al.

Royal Society Open Science, 2021

The Src module: an ancient scaffold in the evolution of cytoplasmic tyrosine kinases.

Shah NH et al.

Critical Reviews in Biochemistry and Molecular Biology, 2018

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

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

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

BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutations.

Tao L et al.

Human Mutation, 2000

Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.

Holinski-Feder E et al.

Pediatrics, 1998

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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."