Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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 |
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 |
---|---|---|---|---|---|
XM_047420766.1 | chr7:g.140778014_140778022delGAAGGCTTG | c.1450_1458delCAAGCCTTC | p.Q484_F486delQAF | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140778050_140778058delATTCAACAT | c.1450_1458delATGTTGAAT | p.M484_N486delMLN | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140778050_140778058delATTCAACAT | c.1450_1458delATGTTGAAT | p.M484_N486delMLN | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140781670_140781678delCGAGTCCCG | c.1450_1458delCGGGACTCG | p.R484_S486delRDS | RefSeq | GRCh38/hg38 |
XM_047420768.1 | 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_001354609.1 | chr7:g.140778050_140778058delATTCAACAT | c.1450_1458delATGTTGAAT | p.M484_N486del | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140776992_140777000delATACAAGCT | c.1450_1458delAGCTTGTAT | p.S484_Y486delSLY | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140776992_140777000delATACAAGCT | c.1450_1458delAGCTTGTAT | p.S484_Y486delSLY | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140781670_140781678delCGAGTCCCG | c.1450_1458delCGGGACTCG | p.R484_S486delRDS | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140777082_140777992del911 | c.1450_1458del911 | p.K485_R487delKTR | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140777037_140777045delTGGCTTTGT | c.1450_1458delACAAAGCCA | p.T484_P486delTKP | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140781670_140781678delCGAGTCCCG | c.1450_1458delCGGGACTCG | p.R484_S486delRDS | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140778050_140778058delATTCAACAT | c.1450_1458delATGTTGAAT | p.M484_N486delMLN | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140778050_140778058delATTCAACAT | c.1450_1458delATGTTGAAT | p.M484_N486del | RefSeq | GRCh38/hg38 |
XM_047420770.1 | chr7:g.140734726_140734734delAATTTTTGG | c.1451_1459delCAAAAATTC | p.P484_I486delPKI | RefSeq | GRCh38/hg38 |
NM_001378475.1 | chr7:g.140754206_140754214delGTGGATGAT | c.1451_1459delTCATCCACA | p.I484_H486delIIH | RefSeq | GRCh38/hg38 |
NM_001374258.1 | 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 |
XM_047420769.1 | chr7:g.140778050_140778058delATTCAACAT | c.1450_1458delATGTTGAAT | p.M484_N486delMLN | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140778050_140778058delATTCAACAT | c.1450_1458delATGTTGAAT | p.M484_N486delMLN | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|