Gene Variant Detail

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Gene BTK
Variant R307K
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BTK R307K lies within the SH2 domain of the Btk protein (PMID: 9524119). R307K confers a loss of Btk function, as indicated by inability to enhance calcium signaling (PMID: 9524119) and decreased phosphorylation of BAP-135 in cell culture (PMID: 9012831).
Associated Drug Resistance

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Transcript NM_000061.2
gDNA chrX:g.101358671C>T
cDNA c.920G>A
Protein p.R307K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001287345.1 chrX:g.101358671C>T c.920G>A p.R307K RefSeq GRCh38/hg38
NM_001287345 chrX:g.101358671C>T c.920G>A p.R307K RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101358671C>T c.920G>A p.R307K RefSeq GRCh38/hg38
NM_000061 chrX:g.101358671C>T c.920G>A p.R307K 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"

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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 R307K loss of function