Gene Variant Detail

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Gene BTK
Variant P189A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BTK P189A lies within the SH3 binding site in the TH domain of the Btk protein (PMID: 7657668). P189A abolishes binding between Btk and specific SH3 domain containing proteins, and results in reduced trans-phosphorylation of Btk (PMID: 7657668).
Associated Drug Resistance

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Transcript NM_000061.2
gDNA chrX:g.101362196G>C
cDNA c.565C>G
Protein p.P189A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001287345 chrX:g.101362196G>C c.565C>G p.P189A RefSeq GRCh38/hg38
NM_001287345.1 chrX:g.101362196G>C c.565C>G p.P189A RefSeq GRCh38/hg38
NM_000061 chrX:g.101362196G>C c.565C>G p.P189A RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101362196G>C c.565C>G p.P189A RefSeq GRCh38/hg38

Filtering

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  • 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 P189A loss of function