BTK E41K
Gene Variant Detail

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Gene BTK
Variant E41K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BTK E41K lies within the pleckstrin homology domain of the Btk protein (UniProt.org). E41K confers a gain of function to the Btk protein as demonstrated by constitutive kinase activity (PMID: 20623551).
Associated Drug Resistance
Category Variants Paths

BTK mutant BTK act mut BTK E41K

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Transcript NM_000061.3
gDNA chrX:g.101375164C>T
cDNA c.121G>A
Protein p.E41K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001287345.2 chrX:g.101375164C>T c.121G>A p.E41K RefSeq GRCh38/hg38
NM_001287345.1 chrX:g.101375164C>T c.121G>A p.E41K RefSeq GRCh38/hg38
NM_001287344.1 chrX:g.101375266C>T c.121G>A p.E41K RefSeq GRCh38/hg38
NM_001287344.2 chrX:g.101375266C>T c.121G>A p.E41K RefSeq GRCh38/hg38
NM_000061 chrX:g.101375164C>T c.121G>A p.E41K RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101375164C>T c.121G>A p.E41K RefSeq GRCh38/hg38
NM_001287344 chrX:g.101375266C>T c.121G>A p.E41K RefSeq GRCh38/hg38
NM_001287345 chrX:g.101375164C>T c.121G>A p.E41K RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101375164C>T c.121G>A p.E41K 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