BTK C481A
Gene Variant Detail

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Gene BTK
Variant C481A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK C481A lies within the protein kinase domain of the Btk protein (UniProt.org). C481A interferes with drug binding, leading to ibrutinib resistance (PMID: 24869597, PMID: 29875397), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Jun 2025).
Associated Drug Resistance Y
Category Variants Paths

BTK mutant BTK C481X BTK C481A

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Transcript NM_000061.3
gDNA chrX:g.101356176_101356177delTGinsGC
cDNA c.1441_1442delTGinsGC
Protein p.C481A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.3 chrX:g.101356176_101356177delTGinsGC c.1441_1442delTGinsGC p.C481A RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101356176_101356177delTGinsGC c.1441_1442delTGinsGC p.C481A RefSeq GRCh38/hg38
NM_000061 chrX:g.101356176_101356177delCAinsGC c.1441_1442delTGinsGC p.C481A 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BTK C481A chronic lymphocytic leukemia predicted - resistant Ibrutinib Preclinical Actionable In a preclinical study, patients with BTK C481 were predicted to have resistance to Imbruvica (ibrutinib) since C481 is in the covalent binding site of the BTK inhibitor and C481A interferes with drug binding (PMID: 24869597). 24869597