Gene Variant Detail

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Gene BTK
Variant K430E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BTK K430E lies within the protein kinase domain of the Btk protein (PMID: 10373551). K430E results in loss of Btk kinase activity, inhibition of Btk-mediated phosphorylation of TFII-I, and TFII-I transcriptional activity in cell culture (PMID: 7538439, PMID: 10373551).
Associated Drug Resistance

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Transcript NM_000061.2
gDNA chrX:g.101356845T>C
cDNA c.1288A>G
Protein p.K430E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061 chrX:g.101356845T>C c.1288A>G p.K430E RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101356845T>C c.1288A>G p.K430E RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
BTK K430E loss of function