Gene Variant Detail

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Gene BRAF
Variant G469del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions BRAF G469del results in the deletion of an amino acid in the protein kinase domain of the Braf protein at amino acid 469 (UniProt.org). G469del demonstrates decreased Braf kinase activity, does not activate downstream ERK, and is minimally transforming in cell culture (PMID: 23833300).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF G469del

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Transcript NM_004333.5
gDNA chr7:g.140781601_140781603delTCC
cDNA c.1405_1407delGGA
Protein p.G469delG
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017012558 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
XM_017012559 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38
NM_004333 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38

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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 )
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  • 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