Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R28S
Back to variants list

BTK

NM_000061.3:p.R28S

Associated Papers

Impact of the clinically approved BTK inhibitors on the conformation of full-length BTK and analysis of the development of BTK resistance mutations in chronic lymphocytic leukemia.

Joseph RE et al.

Biorxiv : the Preprint Server for Biology, 2024

Absence of BTK, BCL2, and PLCG2 Mutations in Chronic Lymphocytic Leukemia Relapsing after First-Line Treatment with Fixed-Duration Ibrutinib plus Venetoclax.

Jain N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

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

Chirino A et al.

Genes, 2023

BTK mutations in patients with chronic lymphocytic leukemia receiving tirabrutinib.

Jackson RA et al.

Blood Advances, 2023

Skin abscesses, X-linked agammaglobulinaemia and spastic paraplegias in a male patient.

Zhang CC et al.

Clinical and Experimental Dermatology, 2022

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

Genetic and Non-Genetic Mechanisms of Resistance to BCR Signaling Inhibitors in B Cell Malignancies.

Ondrisova L et al.

Frontiers in Oncology, 2020

33154951 (PubMed )
Supplement: DataSheet_1.pdf

Dissection of subclonal evolution by temporal mutation profiling in chronic lymphocytic leukemia patients treated with ibrutinib.

Gángó A et al.

International Journal of Cancer, 2020

Resistance-Associated Mutations in Chronic Lymphocytic Leukemia Patients Treated With Novel Agents.

Sedlarikova L et al.

Frontiers in Oncology, 2020

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

Chen XF et al.

Medicine, 2016

Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing.

Chan KW et al.

International Journal of Immunogenetics, 2006

Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA).

Velickovic M et al.

Human Mutation, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."