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Gene | BRAF |
Variant | N486_P490del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF N486_P490del results in the deletion of five amino acids within the alphaC-helix region in the protein kinase domain of the Braf protein from amino acids 486 to 490 (PMID: 26732095). N486_P490del confers a gain of function to the Braf protein as indicated by activation of the MAPK signaling pathway and increased cell proliferation and transformation, and has been demonstrated to confer Braf inhibitor resistance in cell culture (PMID: 37656784, PMID: 26732095). |
Associated Drug Resistance | Y |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF N486_P490del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140778038_140778052del15 |
cDNA | c.1457_1471del15 |
Protein | p.N486_P490delNVTAP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354609.1 | chr7:g.140778038_140778052del15 | c.1457_1471del15 | p.N486_P490delNVTAP | RefSeq | GRCh38/hg38 |
XM_017012559.1 | chr7:g.140781658_140781672del15 | c.1456_1470del15 | p.S486_W490delSSDDW | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140778038_140778052del15 | c.1457_1471del15 | p.N486_P490delNVTAP | RefSeq | GRCh38/hg38 |
XM_017012559 | chr7:g.140781658_140781672del15 | c.1456_1470del15 | p.S486_W490delSSDDW | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140778038_140778052del15 | c.1457_1471del15 | p.N486_P490delNVTAP | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140778038_140778052del15 | c.1457_1471del15 | p.N486_P490delNVTAP | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140781658_140781672del15 | c.1456_1470del15 | p.S486_W490delSSDDW | RefSeq | GRCh38/hg38 |
XM_017012558 | chr7:g.140781658_140781672del15 | c.1456_1470del15 | p.S486_W490delSSDDW | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140778038_140778052del15 | c.1457_1471del15 | p.N486_P490delNVTAP | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140778050_140778064del15 | c.1457_1471del15 | p.K486_V490delKMLNV | RefSeq | GRCh38/hg38 |
NM_001378470.1 | chr7:g.140777034_140777048del15 | c.1456_1470del15 | p.S486_Q490delSTKPQ | RefSeq | GRCh38/hg38 |
NM_001378475.1 | chr7:g.140754194_140754208del15 | c.1456_1470del15 | p.H486_K490delHRDLK | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140778038_140778052del15 | c.1457_1471del15 | p.N486_P490delNVTAP | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140781658_140781672del15 | c.1456_1470del15 | p.S486_W490delSSDDW | RefSeq | GRCh38/hg38 |
XM_047420770.1 | chr7:g.140734715_140734729del15 | c.1456_1470del15 | p.I486_A490delIHRSA | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140781658_140781672del15 | c.1456_1470del15 | p.S486_W490delSSDDW | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140781658_140781672del15 | c.1456_1470del15 | p.S486_W490delSSDDW | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140776980_140776994del15 | c.1456_1470del15 | p.Y486_H490delYHHLH | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140777025_140777039del15 | c.1456_1470del15 | p.P486_I490delPQLAI | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140778038_140778052del15 | c.1457_1471del15 | p.N486_P490delNVTAP | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140777070_140777084del15 | c.1457_1471del15 | p.T486_N490delTRHVN | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140778038_140778052del15 | c.1457_1471del15 | p.N486_P490delNVTAP | RefSeq | GRCh38/hg38 |
XM_047420766.1 | chr7:g.140778002_140778016del15 | c.1456_1470del15 | p.F486_V490delFKNEV | RefSeq | GRCh38/hg38 |
XM_047420768.1 | chr7:g.140781658_140781672del15 | c.1456_1470del15 | p.S486_W490delSSDDW | RefSeq | GRCh38/hg38 |
XM_017012558.1 | chr7:g.140781658_140781672del15 | c.1456_1470del15 | p.S486_W490delSSDDW | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140778038_140778052del15 | c.1457_1471del15 | p.N486_P490delNVTAP | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140776980_140776994del15 | c.1456_1470del15 | p.Y486_H490delYHHLH | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF N486_P490del BRAF R509H | Advanced Solid Tumor | resistant | Vemurafenib | Preclinical - Biochemical | Actionable | In a preclinical study, Zelboraf (vemurafenib) failed to reduce Mek phosphorylation in transformed cells expressing BRAF N486_P490del and R509H in culture (PMID: 26996308). | 26996308 |
BRAF N486_P490del BRAF R509H | Advanced Solid Tumor | sensitive | GDC0879 | Preclinical - Biochemical | Actionable | In a preclinical study, GDC0879 reduced Mek phosphorylation in transformed cells expressing BRAF N486_P490del and R509H in culture (PMID: 26996308). | 26996308 |
BRAF N486_P490del BRAF R509H BRAF V600E | Advanced Solid Tumor | resistant | Vemurafenib | Preclinical - Biochemical | Actionable | In a preclinical study, Zelboraf (vemurafenib) failed to reduce Mek phosphorylation in transformed cells expressing BRAF N486_P490del, V600E, and R509H in culture (PMID: 26996308). | 26996308 |
BRAF N486_P490del BRAF R509H BRAF V600E | Advanced Solid Tumor | sensitive | GDC0879 | Preclinical - Biochemical | Actionable | In a preclinical study, GDC0879 reduced Mek phosphorylation in transformed cells expressing BRAF N486_P490del, V600E, and R509H in culture (PMID: 26996308). | 26996308 |