BTK C481R
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 altered enzymatic activity in an in vitro assay (PMID: 27571029), decreased kinase activity in culture (PMID: 27282255), and decreased autophosphorylation and downstream signaling in culture (PMID: 27282255).
Associated Drug Resistance
Category Variants Paths

BTK mutant BTK C481X BTK C481R

BTK mutant BTK inact mut BTK C481R

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Transcript NM_000061.3
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 chrX:g.101356177A>G c.1441T>C p.C481R RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101356177A>G c.1441T>C p.C481R RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101356177A>G c.1441T>C p.C481R 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 C481R diffuse large B-cell lymphoma resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, diffuse large B-cell lymphoma cell lines expressing BTK C481R demonstrated resistance to Imbruvica (ibrutinib) in culture (PMID: 36183831). 36183831