Gene Variant Detail

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Gene BTK
Variant L528W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK L528W lies within the protein kinase domain of the Btk protein (UniProt.org). L528W 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

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Transcript NM_000061.2
gDNA chrX:g.101354678A>C
cDNA c.1583T>G
Protein p.L528W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101354678A>C c.1583T>G p.L528W RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BTK L528W chronic lymphocytic leukemia predicted - resistant LOXO-305 Case Reports/Case Series Actionable In a clinical case study, two patients with chronic lymphocytic leukemia who previously responded to LOXO-305 treatment were found to have acquired BTK L528W upon disease progression (PMID: 35196427). 35196427
BTK L528W 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 L528W demonstrated resistance to Imbruvica (ibrutinib) in culture (PMID: 35196427). 35196427
BTK L528W 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 L528W demonstrated resistance to Vecabrutinib (SNS-062) in culture (PMID: 35196427). 35196427
BTK L528W diffuse large B-cell lymphoma resistant LOXO-305 Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK L528W demonstrated resistance to LOXO-305 in culture (PMID: 35196427). 35196427
BTK L528W 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 L528W demonstrated resistance to Fenebrutinib (GDC-0853) in culture (PMID: 35196427). 35196427
BTK T474I BTK L528W chronic lymphocytic leukemia predicted - resistant LOXO-305 Case Reports/Case Series Actionable In a clinical case study, a patient with chronic lymphocytic leukemia harboring BTK C481S who previously responded to LOXO-305 treatment was found to have acquired BTK T474I and BTK L528W upon disease progression (PMID: 35196427). 35196427
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References