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Gene | BRAF |
Variant | L485_P490delinsY |
Impact List | indel |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF L485_P490delinsY 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 tyrosine (Y) at the same site (UniProt.org). L485_P490delinsY 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_P490delinsY |
Transcript | NM_004333.6 |
gDNA | chr7:g.140778038_140778055delinsATA |
cDNA | c.1453_1470delinsTAT |
Protein | p.L485_P490delinsY |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333 | chr7:g.140778038_140778055delinsATA | c.1453_1470delinsTAT | p.L485_P490delinsY | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140778038_140778055delinsATA | c.1453_1470delinsTAT | p.L485_P490delinsY | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140778038_140778055delinsATA | c.1453_1470delinsTAT | p.L485_P490delinsY | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140778038_140778055delinsATA | c.1453_1470delinsTAT | p.L485_P490delinsY | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140778038_140778055delinsATA | c.1453_1470delinsTAT | p.L485_P490delinsY | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140778038_140778055delinsATA | c.1453_1470delinsTAT | p.L485_P490delinsY | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140778038_140778055delinsATA | c.1453_1470delinsTAT | p.L485_P490delinsY | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140778038_140778055delinsATA | c.1453_1470delinsTAT | p.L485_P490delinsY | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140778038_140778055delinsATA | c.1453_1470delinsTAT | p.L485_P490delinsY | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF L485_P490delinsY | lung non-small cell carcinoma | sensitive | LY3009120 | Preclinical | Actionable | In a preclinical study, a non-small cell lung carcinoma cell line harboring BRAF L485_P490delinsY was sensitive to LY3009120 in both culture and xenograft models, resulting in significant tumor regression and inhibition of MEK and ERK phosphorylation (PMID: 26732095). | 26732095 |
BRAF L485_P490delinsY | lung non-small cell carcinoma | sensitive | Trametinib | Preclinical | Actionable | In a preclinical study, Mekinist (trametinib) inhibited growth of a non-small cell lung carcinoma cell line harboring BRAF L485_P490delinsY in culture (PMID: 26732095). | 26732095 |
BRAF L485_P490delinsY | lung non-small cell carcinoma | sensitive | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, Mekinist (trametinib) inhibited MAPK signaling and colony formation in a non-small cell lung cancer cell line harboring BRAF L485_P490delinsY in culture (PMID: 37656784). | 37656784 |
BRAF L485_P490delinsY | lung non-small cell carcinoma | resistant | Dabrafenib | Preclinical | Actionable | In a preclinical study, a non-small cell lung carcinoma cell line harboring BRAF L485_P490delinsY was resistant to Tafinlar (dabrafenib) (PMID: 26732095). | 26732095 |
BRAF L485_P490delinsY | 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_P490delinsY in culture (PMID: 37656784). | 37656784 |
BRAF L485_P490delinsY | 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_P490delinsY in culture (PMID: 37656784). | 37656784 |
BRAF L485_P490delinsY | 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_P490delinsY in culture (PMID: 37656784). | 37656784 |
BRAF L485_P490delinsY | 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_P490delinsY in culture (PMID: 37656784). | 37656784 |
BRAF L485_P490delinsY | 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_P490delinsY in culture (PMID: 37656784). | 37656784 |
BRAF L485_P490delinsY | lung non-small cell carcinoma | sensitive | LXH 254 | Preclinical - Cell culture | Actionable | In a preclinical study, LXH 254 inhibited MAPK signaling and colony formation in a non-small cell lung cancer cell line harboring BRAF L485_P490delinsY in culture (PMID: 37656784). | 37656784 |
BRAF L485_P490delinsY | lung non-small cell carcinoma | decreased response | Encorafenib | Preclinical - Cell culture | Actionable | In a preclinical study, a non-small cell lung cancer cell line harboring BRAF L485_P490delinsY was less sensitive to Braftovi (encorafenib) treatment compared to type II RAF inhibitors in culture (PMID: 37656784). | 37656784 |
BRAF L485_P490delinsY | lung non-small cell carcinoma | sensitive | Sorafenib | Preclinical - Cell culture | Actionable | In a preclinical study, Nexavar (sorafenib) inhibited colony formation in a non-small cell lung cancer cell line harboring BRAF L485_P490delinsY in culture (PMID: 37656784). | 37656784 |
BRAF L485_P490delinsY | lung non-small cell carcinoma | predicted - sensitive | Ulixertinib | Preclinical - Biochemical | Actionable | In a preclinical study, Ulixertinib (BVD-523) inhibited metabolic activity in a non-small cell lung cancer cell line harboring BRAF L485_P490delinsY in culture (PMID: 37656784). | 37656784 |
BRAF L485_P490delinsY | lung non-small cell carcinoma | predicted - sensitive | LXH 254 + Trametinib | Preclinical - Biochemical | Actionable | In a preclinical study, combination of Mekinist (trametinib) and LXH 254 resulted in enhanced inhibition of metabolic activity in a non-small cell lung cancer cell line harboring BRAF L485_P490delinsY in culture (PMID: 37656784). | 37656784 |
BRAF L485_P490delinsY | lung non-small cell carcinoma | predicted - sensitive | Sorafenib + Trametinib | Preclinical - Biochemical | Actionable | In a preclinical study, combination of Mekinist (trametinib) and Nexavar (sorafenib) resulted in enhanced inhibition of metabolic activity in a non-small cell lung cancer cell line harboring BRAF L485_P490delinsY in culture (PMID: 37656784). | 37656784 |