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 chrX:g.101356176_101356177delCAinsGC c.1441_1442delTGinsGC p.C481A RefSeq GRCh38/hg38
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

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.

Molecular Profile Protein Effect Treatment Approaches
BTK C481A unknown