BTK V568I
Gene Variant Detail

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Gene BTK
Variant V568I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BTK V568I lies within the protein kinase domain of the Btk protein (UniProt.org). V568I retains binding to Plcg2 and Cdc37, but results in decreased protein stability and expression, loss of Plcg2 phosphorylation and Btk autophosphorylation, and leads to elevated phosphorylation of Akt in anti-immunoglobulin treated cells in culture (PMID: 33419778).
Associated Drug Resistance
Category Variants Paths

BTK mutant BTK inact mut BTK V568I

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Transcript NM_000061.3
gDNA chrX:g.101353918C>T
cDNA c.1702G>A
Protein p.V568I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101353918C>T c.1702G>A p.V568I RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101353918C>T c.1702G>A p.V568I RefSeq GRCh38/hg38
NM_001287344.1 chrX:g.101354661C>T c.1702G>A p.V568I RefSeq GRCh38/hg38
NM_001287344.2 chrX:g.101354661C>T c.1702G>A p.V568I 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