BTK C481F
Gene Variant Detail

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Gene BTK
Variant C481F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK C481F lies within the protein kinase domain of the Btk protein (UniProt.org). C481F confers resistance to BTK inhibitors (PMID: 25189416, PMID: 28178345, PMID: 27282255, PMID: 35639855) and results in loss of autophosphorylation (PMID: 25189416, PMID: 28178345, PMID: 27282255) and loss of kinase activity in an in vitro assay (PMID: 36183831), but maintains BCR signaling through activation of Hck in culture (PMID: 35639855), and therefore, its effect on Btk protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

BTK mutant BTK C481X BTK C481F

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Transcript NM_000061.3
gDNA chrX:g.101356176C>A
cDNA c.1442G>T
Protein p.C481F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.3 chrX:g.101356176C>A c.1442G>T p.C481F RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101356176C>A c.1442G>T p.C481F RefSeq GRCh38/hg38
NM_000061 chrX:g.101356176C>A c.1442G>T p.C481F 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 C481F unknown