Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.V113D
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BTK

NM_000061.3:p.V113D

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

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

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

Wang X et al.

Frontiers in Immunology, 2015

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

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

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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."