Gene Variant Detail

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Gene BTK
Variant T474L
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions BTK T474L lies within the protein kinase domain of the Btk protein (UniProt.org). T474L results in increased kinase activity as demonstrated by increased autophosphorylation of Y223 in cell culture (PMID: 33526860), and therefore, is predicted to lead to a gain of Btk protein function.
Associated Drug Resistance

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Transcript NM_000061.2
gDNA chrX:g.101356197_101356198delACinsCT
cDNA c.1420_1421delACinsCT
Protein p.T474L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101356197_101356198delACinsCT c.1420_1421delACinsCT p.T474L 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
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BTK T474L Advanced Solid Tumor predicted - sensitive Ibrutinib Preclinical - Biochemical Actionable In a preclinical study, treatment with Imbruvica (ibrutinib) resulted in reduced Btk activity in cell lines expressing BTK T474L in culture (PMID: 33526860). 33526860
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
BTK T474L gain of function - predicted