BTK A428D
Gene Variant Detail

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Gene BTK
Variant A428D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK A428D lies within the protein kinase domain of the Btk protein (UniProt.org). A428D results in decreased Btk and Plcg2 phosphorylation and increased calcium ion flux but retains Akt and Erk phosphorylation and demonstrates resistance to BTK inhibitors in culture (PMID: 35196427), and therefore, its effect on Btk protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

BTK mutant BTK A428D

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Transcript NM_000061.3
gDNA chrX:g.101356850G>T
cDNA c.1283C>A
Protein p.A428D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101356850G>T c.1283C>A p.A428D RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101356850G>T c.1283C>A p.A428D RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BTK A428D diffuse large B-cell lymphoma resistant Pirtobrutinib Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK A428D demonstrated resistance to Jaypirca (pirtobrutinib) in culture (PMID: 35196427). 35196427
BTK A428D diffuse large B-cell lymphoma resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK A428D demonstrated resistance to Imbruvica (ibrutinib) in culture (PMID: 35196427). 35196427
BTK A428D diffuse large B-cell lymphoma resistant Fenebrutinib Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK A428D demonstrated resistance to Fenebrutinib (GDC-0853) in culture (PMID: 35196427). 35196427
BTK A428D diffuse large B-cell lymphoma resistant Vecabrutinib Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK A428D demonstrated resistance to Vecabrutinib (SNS-062) in culture (PMID: 35196427). 35196427
BTK A428D mantle cell lymphoma resistant Pirtobrutinib Preclinical - Cell culture Actionable In a preclinical study, a mantle cell lymphoma cell line developed resistance to Jaypirca (pirtobrutinib) after prolonged exposure in culture, and was subsequently found to have acquired BTK A428D (PMID: 36661329). 36661329
BTK A428D mantle cell lymphoma sensitive ARQ 531 Preclinical - Cell culture Actionable In a preclinical study, ARQ 531 inhibited viability of a mantle cell lymphoma cell line harboring BTK A428D in culture (PMID: 36661329). 36661329
BTK A428D chronic lymphocytic leukemia predicted - resistant BGB-16673 Case Reports/Case Series Actionable In a clinical case study, a patient with chronic lymphocytic leukemia harboring BTK T474I experienced progressive disease after an initial response on treatment with BGB-16673 and was found to have acquired BTK A428D and lost BTK T474I (PMID: 39048721). 39048721
BTK A428D lymphoma predicted - sensitive DZD8586 Preclinical - Cell culture Actionable In a preclinical study, DZD8586 inhibited proliferation of lymphoma cells expressing BTK A428D in culture (Blood (2023) 142 (Supplement 1): 2822). detail...