BTK C481X
Gene Variant Detail

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Gene BTK
Variant C481X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK C481X indicates any BTK missense mutation that results in the replacement of the cysteine (C) at amino acid 481 by a different amino acid.
Associated Drug Resistance
Category Variants Paths

BTK mutant BTK C481X

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Transcript NM_000061.3
gDNA chrX:g.101356175_101356177
cDNA c.1441_1443
Protein p.C481
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101356175_101356177 c.1441_1443 p.C481 RefSeq GRCh38/hg38
NM_000061 chrX:g.101356175_101356177 c.1441_1443 p.C481 RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101356175_101356177 c.1441_1443 p.C481 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 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