Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.Q127H
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BTK

NM_000061.3:p.Q127H

Associated Papers

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain.

Shen B et al.

Protein Engineering, Design & Selection : Peds, 2004

Tec kinases: a family with multiple roles in immunity.

Yang WC et al.

Immunity, 2000

Pleckstrin homology domains of tec family protein kinases.

Okoh MP et al.

Biochemical and Biophysical Research Communications, 1999

Structure of the PH domain from Bruton's tyrosine kinase in complex with inositol 1,3,4,5-tetrakisphosphate.

Baraldi E et al.

Structure (london, England : 1993), 1999

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."