Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R307K
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BTK

NM_000061.3:p.R307K

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

BTK autoinhibition analyzed by high-throughput swaps of SH2 domains.

Eisen TJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

[Late diagnosis of WHIM sydrome].

Paolini MV et al.

Medicina, 2018

Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.

Basile N et al.

Journal of Clinical Immunology, 2009

Genome wide analysis of pathogenic SH2 domain mutations.

Lappalainen I et al.

Proteins, 2008

Bruton tyrosine kinase gene mutations in Argentina.

Danielian S et al.

Human Mutation, 2003

Bruton's tyrosine kinase is essential for hydrogen peroxide-induced calcium signaling.

Qin S et al.

Biochemistry, 2001

Six X-linked agammaglobulinemia-causing missense mutations in the Src homology 2 domain of Bruton's tyrosine kinase: phosphotyrosine-binding and circular dichroism analysis.

Mattsson PT et al.

Journal of Immunology (baltimore, Md. : 1950), 2000

Involvement of Bruton's tyrosine kinase in FcepsilonRI-dependent mast cell degranulation and cytokine production.

Hata D et al.

The Journal of Experimental Medicine, 1998

Phosphatidylinositol-3,4,5-trisphosphate (PtdIns-3,4,5-P3)/Tec kinase-dependent calcium signaling pathway: a target for SHIP-mediated inhibitory signals.

Scharenberg AM et al.

The Embo Journal, 1998

Btk/Tec kinases regulate sustained increases in intracellular Ca2+ following B-cell receptor activation.

Fluckiger AC et al.

The Embo Journal, 1998

Constitutive membrane association potentiates activation of Bruton tyrosine kinase.

Li T et al.

Oncogene, 1997

Activation of Bruton's tyrosine kinase (BTK) by a point mutation in its pleckstrin homology (PH) domain.

Li T et al.

Immunity, 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."