Gene Variant Detail

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Gene BTK
Variant E90K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK E90K lies within the PH domain of the Btk protein (UniProt.org). E90K retains binding to Plcg2 and Cdc37, and demonstrates Plcg2 phosphorylation and Btk autophosphorylation levels similar to wild-type Btk, but results in decreased protein stability and expression, and elevated phosphorylation of Akt in anti-immunoglobulin treated cells in culture (PMID: 33419778), and therefore, its effect on Btk protein function is unknown.
Associated Drug Resistance

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Transcript NM_000061.2
gDNA chrX:g.101371674C>T
cDNA c.268G>A
Protein p.E90K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101371674C>T c.268G>A p.E90K RefSeq GRCh38/hg38
NM_001287345.1 chrX:g.101371674C>T c.268G>A p.E90K 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
BTK E90K lymphoma sensitive Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, lymphoma cell lines expressing BTK E90K were sensitive to Imbruvica (ibrutinib) treatment in culture, demonstrating decreased cell viability (PMID: 33419778). 33419778
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
BTK E90K unknown