BTK L528W
Gene Variant Detail

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Gene BTK
Variant L528W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK L528W lies within the protein kinase domain of the Btk protein (UniProt.org). L528W confers resistance to BTK inhibitors in culture (PMID: 35196427, PMID: 36183831, PMID: 39728925), results in loss of kinase activity in in vitro assays (PMID: 36183831, PMID: 38301010), increased calcium ion flux and decreased Btk and Plcg2 phosphorylation in culture (PMID: 35196427), but retains downstream signaling (PMID: 35196427) and calcium ion flux similar to wild-type in a different study (PMID: 36183831), and therefore, its effect on Btk protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

BTK mutant BTK L528W

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Transcript NM_000061.3
gDNA chrX:g.101354678A>C
cDNA c.1583T>G
Protein p.L528W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.3 chrX:g.101354678A>C c.1583T>G p.L528W RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101354678A>C c.1583T>G p.L528W 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries