Gene Variant Detail

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Gene BRAF
Variant M484_N486del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF M484_N486del results in the deletion of three amino acids within the alphaC-helix region in the protein kinase domain of the Braf protein (PMID: 26732095). M484_N486del has not been characterized, however, is predicted to lead to a gain of protein function due to other characterized BRAF deletions in the same region (PMID: 26732095).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF M484_N486del

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Transcript NM_004333.6
gDNA chr7:g.140778050_140778058delATTCAACAT
cDNA c.1450_1458delATGTTGAAT
Protein p.M484_N486delMLN
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140778050_140778058delATTCAACAT c.1450_1458delATGTTGAAT p.M484_N486delMLN RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140781670_140781678delCGAGTCCCG c.1450_1458delCGGGACTCG p.R484_S486delRDS RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140781670_140781678delCGAGTCCCG c.1450_1458delCGGGACTCG p.R484_S486delRDS RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140777046_140777054delGGAATAGCC c.1450_1458delGGCTATTCC p.G484_S486delGYS RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140776992_140777000delATACAAGCT c.1450_1458delAGCTTGTAT p.S484_Y486delSLY RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778050_140778058delATTCAACAT c.1450_1458delATGTTGAAT p.M484_N486del RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778050_140778058delATTCAACAT c.1450_1458delATGTTGAAT p.M484_N486delMLN RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140781670_140781678delCGAGTCCCG c.1450_1458delCGGGACTCG p.R484_S486delRDS RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140777037_140777045delTGGCTTTGT c.1450_1458delACAAAGCCA p.T484_P486delTKP RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778050_140778058delATTCAACAT c.1450_1458delATGTTGAAT p.M484_N486del RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778050_140778058delATTCAACAT c.1450_1458delATGTTGAAT p.M484_N486delMLN RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140776992_140777000delATACAAGCT c.1450_1458delAGCTTGTAT p.S484_Y486delSLY RefSeq GRCh38/hg38
XM_047420770.1 chr7:g.140734726_140734734delAATTTTTGG c.1451_1459delCAAAAATTC p.P484_I486delPKI RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140777082_140777992del911 c.1450_1458del911 p.K485_R487delKTR RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140778014_140778022delGAAGGCTTG c.1450_1458delCAAGCCTTC p.Q484_F486delQAF RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140781670_140781678delCGAGTCCCG c.1450_1458delCGGGACTCG p.R484_S486delRDS RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140778059_140778067delTTTCACTGC c.1450_1458delGCAGTGAAA p.A484_K486delAVK RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778050_140778058delATTCAACAT c.1450_1458delATGTTGAAT p.M484_N486delMLN RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140754206_140754214delGTGGATGAT c.1451_1459delTCATCCACA p.I484_H486delIIH RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140781670_140781678delCGAGTCCCG c.1450_1458delCGGGACTCG p.R484_S486delRDS RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778050_140778058delATTCAACAT c.1450_1458delATGTTGAAT p.M484_N486delMLN RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries