BTK P597S
Gene Variant Detail

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Gene BTK
Variant P597S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BTK P597S lies within the protein kinase domain of the Btk protein (UniProt.org). P597S retains binding to Plcg2 and Cdc37, but results in decreased protein stability and expression, loss of Plcg2 phosphorylation and Btk autophosphorylation, 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 P597S

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Transcript NM_000061.3
gDNA chrX:g.101353313G>A
cDNA c.1789C>T
Protein p.P597S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101353313G>A c.1789C>T p.P597S RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101353313G>A c.1789C>T p.P597S 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 P597S loss of function