BTK C481S
Gene Variant Detail

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Gene BTK
Variant C481S
Impact List missense
Protein Effect no effect
Gene Variant Descriptions BTK C481S lies within the protein kinase domain of the Btk protein (UniProt.org). C481S demonstrates kinase activity similar to wild-type Btk (PMID: 38301010), but confers Imbruvica (ibrutinib) resistance in cell culture (PMID: 27282255, PMID: 28573668) through interference of drug binding (PMID: 25189416, PMID: 23940282).
Associated Drug Resistance Y
Category Variants Paths

BTK mutant BTK C481X BTK C481S

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Transcript NM_000061.3
gDNA chrX:g.101356177A>T
cDNA c.1441T>A
Protein p.C481S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101356177A>T c.1441T>A p.C481S RefSeq GRCh38/hg38
NM_000061 chrX:g.101356177A>T c.1441T>A p.C481S RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101356177A>T c.1441T>A p.C481S 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
  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT06757647 Phase II Acalabrutinib Acalabrutinib for the Treatment of Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma Recruiting USA 0
NCT05983965 Phase I Tazemetostat Acalabrutinib + Tazemetostat Study of Tazemetostat in Lymphoid Malignancies Terminated USA 0