BTK C481F
Gene Variant Detail

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Gene BTK
Variant C481F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK C481F lies within the protein kinase domain of the Btk protein (UniProt.org). C481F confers resistance to BTK inhibitors (PMID: 25189416, PMID: 28178345, PMID: 27282255, PMID: 35639855) and results in loss of autophosphorylation (PMID: 25189416, PMID: 28178345, PMID: 27282255) and loss of kinase activity in an in vitro assay (PMID: 36183831), 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 C481F

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Transcript NM_000061.3
gDNA chrX:g.101356176C>A
cDNA c.1442G>T
Protein p.C481F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061 chrX:g.101356176C>A c.1442G>T p.C481F RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101356176C>A c.1442G>T p.C481F RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101356176C>A c.1442G>T p.C481F RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • 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 C481F diffuse large B-cell lymphoma resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, diffuse large B-cell lymphoma cell lines expressing BTK C481F demonstrated resistance to Imbruvica (ibrutinib) in culture (PMID: 36183831). 36183831
BTK C481F diffuse large B-cell lymphoma resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, the BTK C481F mutation was identified in diffuse large B-cell lymphoma cells that acquired resistance to Imbruvica (ibrutinib) in culture (PMID: 28178345). 28178345
BTK C481F diffuse large B-cell lymphoma resistant Tirabrutinib Preclinical - Cell culture Actionable In a preclinical study, diffuse large B-cell lymphoma cells that acquired resistance to Imbruvica (ibrutinib) harbored the BTK C481F mutation, and was resistant to Tirabrutinib (ONO-4059) in culture (PMID: 28178345). 28178345
BTK C481F diffuse large B-cell lymphoma resistant Idelalisib Preclinical - Cell culture Actionable In a preclinical study, diffuse large B-cell lymphoma cells that acquired resistance to Imbruvica (ibrutinib) harbored the BTK C481F mutation, and was resistant to Zydelig (idelalisib) in culture (PMID: 28178345). 28178345
BTK C481F diffuse large B-cell lymphoma resistant Idelalisib + Tirabrutinib Preclinical - Cell culture Actionable In a preclinical study, diffuse large B-cell lymphoma cells that acquired resistance to Imbruvica (ibrutinib) harbored the BTK C481F mutation, and was resistant to Zydelig (idelalisib) and Tirabrutinib (ONO-4059) combination treatment in culture (PMID: 28178345). 28178345
BTK C481F mantle cell lymphoma resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, a mantle cell lymphoma cell line developed resistance to Imbruvica (ibrutinib) after prolonged exposure in culture, and was subsequently found to have acquired BTK C481F (PMID: 36661329). 36661329
BTK C481F 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 C481F in culture (PMID: 36661329). 36661329
BTK C481F hematologic cancer resistant Acalabrutinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing BTK C481F were resistant to treatment with Calquence (acalabrutinib) in culture (PMID: 35639855). 35639855
BTK C481F hematologic cancer resistant Zanubrutinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing BTK C481F were resistant to treatment with Brukinsa (zanubrutinib) in culture (PMID: 35639855). 35639855
BTK C481F lymphoma predicted - sensitive DZD8586 Preclinical - Cell culture Actionable In a preclinical study, DZD8586 inhibited proliferation of lymphoma cells expressing BTK C481F in culture (Blood (2023) 142 (Supplement 1): 2822). detail...
BTK C481F hematologic cancer resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing BTK C481F were resistant to treatment with Imbruvica (ibrutinib) in culture (PMID: 35639855). 35639855