BTK V416L
Gene Variant Detail

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Gene BTK
Variant V416L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BTK V416L lies within the protein kinase domain of the Btk protein (UniProt.org). V416L retains Akt and Erk phosphorylation in culture (PMID: 35196427, PMID: 36661329), but results in decreased Btk autophosphorylation and loss of kinase activity in culture (PMID: 38301010), decreased Btk and Plcg2 phosphorylation and increased calcium ion flux in culture, and demonstrates resistance to BTK inhibitors in culture (PMID: 35196427, PMID: 36661329), and therefore, is predicted to lead to a loss of Btk protein function.
Associated Drug Resistance Y
Category Variants Paths

BTK mutant BTK inact mut BTK V416L

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Transcript NM_000061.3
gDNA chrX:g.101356887C>G
cDNA c.1246G>C
Protein p.V416L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.3 chrX:g.101356887C>G c.1246G>C p.V416L RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101356887C>G c.1246G>C p.V416L RefSeq GRCh38/hg38

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  • 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 )
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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 V416L 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 V416L demonstrated resistance to Jaypirca (pirtobrutinib) in culture (PMID: 35196427). 35196427
BTK V416L 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 V416L demonstrated resistance to Jaypirca (pirtobrutinib) in culture (PMID: 38301010). 38301010
BTK V416L chronic lymphocytic leukemia predicted - resistant Pirtobrutinib Case Reports/Case Series Actionable In a clinical case study, a patient with chronic lymphocytic leukemia who previously responded to Jaypirca (pirtobrutinib) treatment was found to have acquired a BTK V416L upon disease progression (PMID: 35196427). 35196427
BTK V416L diffuse large B-cell lymphoma sensitive Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, Imbruvica (ibrutinib) treatment inhibited phosphorylation of Btk and decreased viability of a diffuse large B-cell lymphoma cell line expressing BTK V416L in culture (PMID: 35196427). 35196427
BTK V416L 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 V416L demonstrated resistance to Fenebrutinib (GDC-0853) in culture (PMID: 35196427). 35196427
BTK V416L 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 V416L demonstrated resistance to Vecabrutinib (SNS-062) in culture (PMID: 35196427). 35196427
BTK V416L diffuse large B-cell lymphoma sensitive ARQ 531 Preclinical - Cell culture Actionable In a preclinical study, ARQ 531 treatment inhibited viability of a diffuse large B-cell lymphoma cell line harboring BTK V416L in culture (PMID: 35196427). 35196427
BTK V416L diffuse large B-cell lymphoma predicted - sensitive NX-5948 Preclinical - Cell culture Actionable In a preclinical study, NX-5948 inhibited Btk signaling and proliferation of a diffuse large B-cell lymphoma cell line expressing BTK V416L in culture (Cancer Res (2023) 83 (7_Supplement): 2850). detail...
BTK V416L mantle cell lymphoma resistant RN486 Preclinical - Cell culture Actionable In a preclinical study, a mantle cell lymphoma cell line developed resistance to RN486 after prolonged exposure in culture, and was subsequently found to have acquired BTK V416L (PMID: 36661329). 36661329
BTK V416L 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 V416L in culture (PMID: 36661329). 36661329
BTK V416L diffuse large B-cell lymphoma sensitive NX-2127 Preclinical - Cell culture Actionable In a preclinical study, NX-2127 inhibited viability of a diffuse large B-cell lymphoma cell line expressing BTK V416L in culture (PMID: 38301010). 38301010
BTK V416L diffuse large B-cell lymphoma resistant Acalabrutinib Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK V416L demonstrated resistance to Calquence (acalabrutinib) in culture (PMID: 38301010). 38301010
BTK V416L lymphoma predicted - sensitive DZD8586 Preclinical - Cell culture Actionable In a preclinical study, DZD8586 inhibited proliferation of lymphoma cells expressing BTK V416L in culture (Blood (2023) 142 (Supplement 1): 2822). detail...