Gene Variant Detail

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Gene BRAF
Variant P490_Q494del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF P490_Q494del results in the deletion of five amino acids near the alphaC-helix region of the protein kinase domain in the Braf protein from amino acids 490 to 494 (PMID: 26732095). P490_Q494del results in activation of Mek in cell culture (PMID: 26996308), and similar Braf deletions are activating (PMID: 26996308, PMID: 26732095), and therefore P490_Q494del is predicted to confer a gain of function to the Braf function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF P490_Q494del

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Transcript NM_004333.5
gDNA chr7:g.140778026_140778040del15
cDNA c.1468_1482del15
Protein p.P490_Q494delPTPQQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ RefSeq GRCh38/hg38
XM_017012558 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38
NM_004333 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ RefSeq GRCh38/hg38
XM_017012559 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38

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  • 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