BTK C481T
Gene Variant Detail

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Gene BTK
Variant C481T
Impact List missense
Protein Effect no effect
Gene Variant Descriptions BTK C481T lies within the protein kinase domain of the Btk protein (UniProt.org). C481T demonstrates kinase activity similar to wild-type Btk, but confers Imbruvica (ibrutinib) resistance in cell culture (PMID: 27282255).
Associated Drug Resistance Y
Category Variants Paths

BTK mutant BTK C481X BTK C481T

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Transcript NM_000061.3
gDNA chrX:g.101356176_101356177delTGinsAC
cDNA c.1441_1442delTGinsAC
Protein p.C481T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101356176_101356177delTGinsAC c.1441_1442delTGinsAC p.C481T RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101356176_101356177delTGinsAC c.1441_1442delTGinsAC p.C481T RefSeq GRCh38/hg38
NM_000061 chrX:g.101356176_101356177delCAinsGT c.1441_1442delTGinsAC p.C481T 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.
  • 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 C481T Advanced Solid Tumor resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing BTK C481T were resistant to Imbruvica (ibrutinib) in culture (PMID: 27282255). 27282255
BTK C481T lymphoma resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, lymphoma cells over expressing BTK C481T were resistant to Imbruvica (ibrutinib) in culture (PMID: 27282255). 27282255
BTK C481T Advanced Solid Tumor predicted - sensitive RN486 Preclinical - Biochemical Actionable In a preclinical study, treatment with RN486 resulted in reduced Btk activity in a cell line expressing BTK C481T in culture (PMID: 33526860). 33526860