Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.C481F
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BTK

NM_000061.3:p.C481F

Associated Papers

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

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_S6

Pharmacological profiling in CLL patients during pirtobrutinib therapy and disease progression.

Tantawy SI et al.

Blood Cancer Journal, 2025

41145426 (PubMed )
Supplement: 41408_2025_1382_MOESM2_ESM.pdf

In Silico Investigation of BTK as a Potent Immunomodulatory Target: Exploring Novel Therapeutic Approaches for Multiple Sclerosis.

Saba A et al.

Acs Omega, 2025

40787374 (PubMed )
Supplement: ao5c03682_si_002.pdf

Resistance mechanisms and approach to chronic lymphocytic leukemia after BTK inhibitor therapy.

Gruessner C et al.

Leukemia & Lymphoma, 2025

Multiplex digital PCR enables sensitive detection of resistance to BTK inhibitors.

Garcia M et al.

Annals of Hematology, 2025

Acquired mutations in patients with relapsed/refractory CLL who progressed in the ALPINE study.

Brown JR et al.

Blood Advances, 2025

Pharmacological profiling in CLL patients during pirtobrutinib therapy and disease progression.

Gandhi V et al.

Research Square, 2025

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.

Elife, 2024

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

Discovery of a novel BTK inhibitor S-016 and identification of a new strategy for the treatment of lymphomas including BTK inhibitor-resistant lymphomas.

Song PR et al.

Acta Pharmacologica Sinica, 2024

Mutational profile in previously treated patients with chronic lymphocytic leukemia progression on acalabrutinib or ibrutinib.

Woyach JA et al.

Blood, 2024

Early reappearance of intraclonal proliferative subpopulations in ibrutinib-resistant chronic lymphocytic leukemia.

Pozzo F et al.

Leukemia, 2024

38914716 (PubMed )
Supplement: 41375_2024_2301_MOESM2_ESM.xlsx › Foglio1

Mutation in Bruton Tyrosine Kinase (BTK) A428D confers resistance To BTK-degrader therapy in chronic lymphocytic leukemia.

Wong RL et al.

Leukemia, 2024

The Evolving Role of Bruton's Tyrosine Kinase Inhibitors in B Cell Lymphomas.

Mehra S et al.

International Journal of Molecular Sciences, 2024

BTK inhibitors in CLL: second-generation drugs and beyond.

Tam C et al.

Blood Advances, 2024

A Review of Resistance Mechanisms to Bruton's Kinase Inhibitors in Chronic Lymphocytic Leukemia.

Wiśniewski K et al.

International Journal of Molecular Sciences, 2024

Kinase-impaired BTK mutations are susceptible to clinical-stage BTK and IKZF1/3 degrader NX-2127.

Montoya S et al.

Science (new York, N.y.), 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

Mutations Detected in Real World Clinical Sequencing during BTK Inhibitor Treatment in CLL.

Brown J et al.

Research Square, 2024

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

Chirino A et al.

Genes, 2023

Acquired BTK mutations associated with resistance to noncovalent BTK inhibitors.

Qi J et al.

Blood Advances, 2023

B-cell Receptor Pathway Mutations Are Infrequent in Patients with Chronic Lymphocytic Leukemia on Continuous Ibrutinib Therapy.

Woyach JA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Molecular associations of response to the new-generation BTK inhibitor zanubrutinib in marginal zone lymphoma.

Tatarczuch M et al.

Blood Advances, 2023

BTK mutations in patients with chronic lymphocytic leukemia receiving tirabrutinib.

Jackson RA et al.

Blood Advances, 2023

BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib.

Bonfiglio S et al.

Blood Advances, 2023

Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance.

Naeem A et al.

Blood Advances, 2023

Genetics and epigenetics of CLL.

Paul P et al.

Leukemia & Lymphoma, 2023

Orally bioavailable BTK PROTAC active against wild-type and C481 mutant BTKs in human lymphoma CDX mouse models.

Lim YS et al.

Blood Advances, 2023

BTK kinase activity is dispensable for the survival of diffuse large B-cell lymphoma.

Yuan H et al.

The Journal of Biological Chemistry, 2022

Enrichment of BTK Leu528Trp mutations in patients with CLL on zanubrutinib: potential for pirtobrutinib cross-resistance.

Blombery P et al.

Blood Advances, 2022

Kinase-deficient BTK mutants confer ibrutinib resistance through activation of the kinase HCK.

Dhami K et al.

Science Signaling, 2022

Pirtobrutinib inhibits wild-type and mutant Bruton's tyrosine kinase-mediated signaling in chronic lymphocytic leukemia.

Aslan B et al.

Blood Cancer Journal, 2022

Single-cell sequencing demonstrates complex resistance landscape in CLL and MCL treated with BTK and BCL2 inhibitors.

Thompson ER et al.

Blood Advances, 2022

A single-tube multiplex method for monitoring mutations in cysteine 481 of Bruton Tyrosine Kinase (BTK) gene in chronic lymphocytic leukemia patients treated with ibrutinib.

Maffei R et al.

Leukemia & Lymphoma, 2021

BTK gatekeeper residue variation combined with cysteine 481 substitution causes super-resistance to irreversible inhibitors acalabrutinib, ibrutinib and zanubrutinib.

Estupiñán HY et al.

Leukemia, 2021

Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Hamid AB et al.

Cancers, 2020

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

Sedlarikova L et al.

Frontiers in Oncology, 2020

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Resistance-no-BCR-ABL1
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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."