Gene Variant Detail

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Gene BRAF
Variant N486_A489delinsK
Impact List indel
Protein Effect unknown
Gene Variant Descriptions BRAF N486_A489delinsK results in a deletion of four amino acids in the protein kinase domain of the Braf protein from amino acids 486 to 489, combined with the insertion of a lysine (K) at the same site (UniProt.org). N486_A489delinsK has been identified in sequencing studies (PMID: 29247016), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF N486_A489delinsK

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Transcript NM_004333.6
gDNA chr7:g.140778042_140778050delGCTGTCACA
cDNA c.1458_1466delTGTGACAGC
Protein p.N486_A489delinsK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140778042_140778050delGCTGTCACA c.1458_1466delTGTGACAGC p.N486_A489delinsK RefSeq GRCh38/hg38
NM_004333 chr7:g.140778042_140778050delGCTGTCACA c.1458_1466delTGTGACAGC p.N486_A489delinsK RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778042_140778050delGCTGTCACA c.1458_1466delTGTGACAGC p.N486_A489delinsK RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778042_140778050delGCTGTCACA c.1458_1466delTGTGACAGC p.N486_A489delinsK RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778042_140778050delGCTGTCACA c.1458_1466delTGTGACAGC p.N486_A489delinsK RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778042_140778050delGCTGTCACA c.1458_1466delTGTGACAGC p.N486_A489delinsK RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778042_140778050delGCTGTCACA c.1458_1466delTGTGACAGC p.N486_A489delinsK RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778042_140778050delGCTGTCACA c.1458_1466delTGTGACAGC p.N486_A489delinsK RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778042_140778050delGCTGTCACA c.1458_1466delTGTGACAGC p.N486_A489delinsK RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References