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
Category Variants Paths

BTK mutant BTK inact mut BTK R307K

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Transcript NM_000061.3
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_000061 chrX:g.101358671C>T c.920G>A p.R307K RefSeq GRCh38/hg38
NM_000061.3 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_001287345 chrX:g.101358671C>T c.920G>A p.R307K RefSeq GRCh38/hg38
NM_001287345.2 chrX:g.101358671C>T c.920G>A p.R307K RefSeq GRCh38/hg38
NM_001287345.1 chrX:g.101358671C>T c.920G>A p.R307K RefSeq GRCh38/hg38

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References