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Gene BRAF
Variant L485_P490delinsF
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions BRAF L485_P490delinsF results in a deletion of six amino acids in the protein kinase domain of the Braf protein from amino acids 485 to 490, combined with the insertion of a phenylalanine (F) at the same site (UniProt.org). L485_P490delinsF results in increased Mek/Erk phosphorylation, is transforming, and is associated with resistance to select RAF inhibitors in culture (PMID: 37656784).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF L485_P490delinsF

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Transcript NM_004333.6
gDNA chr7:g.140778039_140778053del15
cDNA c.1455_1469del15
Protein p.L485_P490delinsF
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140778039_140778053del15 c.1455_1469del15 p.L485_P490delinsF RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778039_140778053del15 c.1455_1469del15 p.L485_P490delinsF RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778039_140778053del15 c.1455_1469del15 p.L485_P490delinsF RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778039_140778053del15 c.1455_1469del15 p.L485_P490delinsF RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778039_140778053del15 c.1455_1469del15 p.L485_P490delinsF RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778039_140778053del15 c.1455_1469del15 p.L485_P490delinsF RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778039_140778053del15 c.1455_1469del15 p.L485_P490delinsF RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778039_140778053del15 c.1455_1469del15 p.L485_P490delinsF RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778039_140778053del15 c.1455_1469del15 p.L485_P490delinsF RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF L485_P490delinsF Advanced Solid Tumor predicted - sensitive Trametinib Preclinical - Biochemical Actionable In a preclinical study, Mekinist (trametinib) inhibited Mek and Erk phosphorylation in cells expressing BRAF L485_P490delinsF in culture (PMID: 37656784). 37656784
BRAF L485_P490delinsF Advanced Solid Tumor predicted - resistant Dabrafenib Preclinical - Biochemical Actionable In a preclinical study, Tafinlar (dabrafenib) did not inhibit Mek and Erk phosphorylation in cells expressing BRAF L485_P490delinsF in culture (PMID: 37656784). 37656784
BRAF L485_P490delinsF Advanced Solid Tumor predicted - resistant Vemurafenib Preclinical - Biochemical Actionable In a preclinical study, Zelboraf (vemurafenib) did not inhibit Mek and Erk phosphorylation in cells expressing BRAF L485_P490delinsF in culture (PMID: 37656784). 37656784
BRAF L485_P490delinsF Advanced Solid Tumor predicted - resistant Encorafenib Preclinical - Biochemical Actionable In a preclinical study, Braftovi (encorafenib) did not inhibit Mek and Erk phosphorylation in cells expressing BRAF L485_P490delinsF in culture (PMID: 37656784). 37656784
BRAF L485_P490delinsF Advanced Solid Tumor predicted - sensitive LXH 254 Preclinical - Biochemical Actionable In a preclinical study, LXH 254 inhibited Mek and Erk phosphorylation in cells expressing BRAF L485_P490delinsF in culture (PMID: 37656784). 37656784