BTK C481Y
Gene Variant Detail

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Gene BTK
Variant C481Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK C481Y lies within the protein kinase domain of the Btk protein (UniProt.org). C481Y confers resistance to BTK inhibitors, results in a loss of Btk kinase activity in in vitro assays and in cell culture (PMID: 36183831, PMID: 35639855), but maintains BCR signaling through activation of Hck in culture (PMID: 35639855), and therefore, its effect on Btk protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

BTK mutant BTK C481X BTK C481Y

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Transcript NM_000061.3
gDNA chrX:g.101356176C>T
cDNA c.1442G>A
Protein p.C481Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.3 chrX:g.101356176C>T c.1442G>A p.C481Y 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")

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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BTK C481Y diffuse large B-cell lymphoma resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, diffuse large B-cell lymphoma cell lines expressing BTK C481Y demonstrated resistance to Imbruvica (ibrutinib) in culture (PMID: 36183831). 36183831
BTK C481Y hematologic cancer resistant Acalabrutinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing BTK C481Y were resistant to treatment with Calquence (acalabrutinib) in culture (PMID: 35639855). 35639855
BTK C481Y hematologic cancer resistant Zanubrutinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing BTK C481Y were resistant to treatment with Brukinsa (zanubrutinib) in culture (PMID: 35639855). 35639855
BTK C481Y hematologic cancer sensitive A-419259 Preclinical - Cell culture Actionable In a preclinical study, A-419259 inhibited colony formation in an Imbruvica (ibrutinib)-resistant cell line harboring BTK C481Y in culture (PMID: 35639855). 35639855
BTK C481Y lymphoma predicted - sensitive DZD8586 Preclinical - Cell culture Actionable In a preclinical study, DZD8586 inhibited proliferation of lymphoma cells expressing BTK C481Y in culture (Blood (2023) 142 (Supplement 1): 2822). detail...