Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R544Splc
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BTK

NM_000061.3:p.R544Splc

Associated Papers

EBV-Driven HLH and T Cell Lymphoma in a Child with X-Linked Agammaglobulinemia: A Genetically Confirmed Case Report and Literature Review.

Perez-Olais JH et al.

Journal of Personalized Medicine, 2025

40863427 (PubMed )
Supplement: jpm-15-00365-s001.zip › jpm-3708733-supplementary.pdf

Resisting the Resistance: Navigating BTK Mutations in Chronic Lymphocytic Leukemia (CLL).

Chirino A et al.

Genes, 2023

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

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

A Novel BTK Gene Mutation in a Child With Atypical X-Linked Agammaglobulinemia and Recurrent Hemophagocytosis: A Case Report.

Han SP et al.

Frontiers in Immunology, 2019

[Late diagnosis of WHIM sydrome].

Paolini MV et al.

Medicina, 2018

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).

Chen XF et al.

Medicine, 2016

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

The energy landscape analysis of cancer mutations in protein kinases.

Dixit A et al.

Plos One, 2011

21998754 (PubMed )
Supplement: pone.0026071.s009.doc

Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.

Lee PP et al.

Journal of Clinical Immunology, 2010

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

Crystal structure of Bruton's tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia.

Mao C et al.

The Journal of Biological Chemistry, 2001

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

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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."