BRAF N486_T491delinsK
Gene Variant Detail

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Gene BRAF
Variant N486_T491delinsK
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions BRAF N486_T491delinsK results in a deletion of six amino acids in the protein kinase domain of the Braf protein from amino acids 486 to 491, combined with the insertion of a lysine (K) at the same site (UniProt.org). N486_A491delinsK confers a gain of function to Braf, as indicated by increased ERK activation and transformation of cultured cells (PMID: 30867592).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF N486_T491delinsK

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Transcript NM_004333.6
gDNA chr7:g.140778036_140778050del15
cDNA c.1458_1472del15
Protein p.N486_T491delinsK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378468.1 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_004333 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38

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Molecular Profile Protein Effect Treatment Approaches
BRAF N486_T491delinsK gain of function MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor