Gene Variant Detail

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Gene BTK
Variant C481R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BTK C481R lies within the protein kinase domain of the Btk protein (UniProt.org). C481R confers a loss of function to the Btk protein as indicated by reduced enzymatic activity in vitro compared to wild-type Btk (PMID: 27571029, PMID: 27282255).
Associated Drug Resistance

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Transcript NM_000061.2
gDNA chrX:g.101356177A>G
cDNA c.1441T>C
Protein p.C481R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101356177A>G c.1441T>C p.C481R RefSeq GRCh38/hg38
NM_000061 chrX:g.101356177A>G c.1441T>C p.C481R 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
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BTK C481X chronic lymphocytic leukemia predicted - resistant Ibrutinib Phase II Actionable In a Phase II trial, BTK C481X and/or PLCG2 mutations were identified in 80% (8/10) of patients with progressive disease and in 20% (1/5) of patients with prolymphocytic transformation of chronic lymphocytic leukemia while on Imbruvica (ibrutinib) treatment (PMID: 28049639, NCT01500733). 28049639
Molecular Profile Protein Effect Treatment Approaches
BTK C481R loss of function
BTK C481R BTK L528W
BTK T474I BTK C481R