BTK T474N
Gene Variant Detail

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Gene BTK
Variant T474N
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BTK T474N lies within the protein kinase domain of the Btk protein (UniProt.org). T474N results in reduced kinase activity as demonstrated by decreased autophosphorylation of Y223 in cell culture (PMID: 33526860), and therefore, is predicted to lead to loss of Btk protein function.
Associated Drug Resistance
Category Variants Paths

BTK mutant BTK inact mut BTK T474N

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Transcript NM_000061.3
gDNA chrX:g.101356197G>T
cDNA c.1421C>A
Protein p.T474N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101356197G>T c.1421C>A p.T474N RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101356197G>T c.1421C>A p.T474N 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