Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.T117P
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BTK

NM_000061.3:p.T117P

Associated Papers

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_1.xlsx › Suppl_table_1

Follicular Lymphoma-associated BTK Mutations are Inactivating Resulting in Augmented AKT Activation.

Hu N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management.

Vince N et al.

Human Immunology, 2018

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

Bruton's tyrosine kinase is essential for human B cell tolerance.

Ng YS et al.

The Journal of Experimental Medicine, 2004

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

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."