BTK V416L
Gene Variant Detail

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Gene BTK
Variant V416L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BTK V416L lies within the protein kinase domain of the Btk protein (UniProt.org). V416L retains Akt and Erk phosphorylation in culture (PMID: 35196427, PMID: 36661329), but results in decreased Btk autophosphorylation and loss of kinase activity in culture (PMID: 38301010), decreased Btk and Plcg2 phosphorylation and increased calcium ion flux in culture, and demonstrates resistance to BTK inhibitors in culture (PMID: 35196427, PMID: 36661329), and therefore, is predicted to lead to a loss of Btk protein function.
Associated Drug Resistance Y
Category Variants Paths

BTK mutant BTK inact mut BTK V416L

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Transcript NM_000061.3
gDNA chrX:g.101356887C>G
cDNA c.1246G>C
Protein p.V416L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101356887C>G c.1246G>C p.V416L RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101356887C>G c.1246G>C p.V416L 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 V416L loss of function - predicted