Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.F25S
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BTK

NM_000061.3:p.F25S

Associated Papers

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Structural mechanism for Bruton's tyrosine kinase activation at the cell membrane.

Wang Q et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

Lipid and Protein Co-Regulation of PI3K Effectors Akt and Itk in Lymphocytes.

Wang X et al.

Frontiers in Immunology, 2015

Molecular dynamic simulation to explore the molecular basis of Btk-PH domain interaction with Ins(1,3,4,5)P4.

Lu D et al.

Thescientificworldjournal, 2013

A conserved motif in the ITK PH-domain is required for phosphoinositide binding and TCR signaling but dispensable for adaptor protein interactions.

Hirve N et al.

Plos One, 2012

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_

Molecular modeling studies of the Akt PH domain and its interaction with phosphoinositides.

Rong SB et al.

Journal of Medicinal Chemistry, 2001

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

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

Vihinen M et al.

Nucleic Acids Research, 1998

[XLA (X-linked agammaglobulinemia)].

Kato M et al.

Ryoikibetsu Shokogun Shirizu, 1998

Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.

Saha BK et al.

Molecular Medicine (cambridge, Mass.), 1997

Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia.

Hyvönen M et al.

The Embo Journal, 1997

Mutation of the pleckstrin homology domain of Bruton's tyrosine kinase in immunodeficiency impaired inositol 1,3,4,5-tetrakisphosphate binding capacity.

Fukuda M et al.

The Journal of Biological Chemistry, 1996

X-linked agammaglobulinemia (XLA): a genetic tyrosine kinase (Btk) disease.

Mattsson PT et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 1996

Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia.

Vihinen M et al.

Biochemistry, 1995

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.

Vorechovský I et al.

Human Molecular Genetics, 1995

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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."