Gene Variant Detail

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Gene BTK
Variant T316A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK T316A lies within the SH2 domain of the Btk protein (UniProt.org). T316A has been demonstrated to confer resistance to resistance to Imbruvica (ibrutinib) in culture (PMID: 27626698), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
Associated Drug Resistance Y

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Transcript NM_000061.2
gDNA chrX:g.101358645T>C
cDNA c.946A>G
Protein p.T316A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001287345.1 chrX:g.101358645T>C c.946A>G p.T316A RefSeq GRCh38/hg38
NM_001287345 chrX:g.101358645T>C c.946A>G p.T316A RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101358645T>C c.946A>G p.T316A RefSeq GRCh38/hg38
NM_000061 chrX:g.101358645T>C c.946A>G p.T316A 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 T316A lymphoma resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, lymphoma cells expressing BTK T316A were resistant to Imbruvica (ibrutinib) in culture (PMID: 27626698) 27626698
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
BTK T316A unknown