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| Gene | BRAF |
| Variant | L485_T488delinsF |
| Impact List | indel |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | BRAF L485_T488delinsF results in a deletion of four amino acids in the protein kinase domain of the Braf protein from amino acids 485 to 488, combined with the insertion of a phenylalanine (F) at the same site (UniProt.org). L485_T488delinsF 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: 37656784). |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF act mut BRAF L485_T488delinsF |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140778044_140778055delinsAAA |
| cDNA | c.1453_1464delinsTTT |
| Protein | p.L485_T488delinsF |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378468.1 | chr7:g.140778044_140778055delinsAAA | c.1453_1464delinsTTT | p.L485_T488delinsF | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140778044_140778055delinsAAA | c.1453_1464delinsTTT | p.L485_T488delinsF | RefSeq | GRCh38/hg38 |
| XM_047420769.1 | chr7:g.140778044_140778055delinsAAA | c.1453_1464delinsTTT | p.L485_T488delinsF | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140778044_140778055delinsAAA | c.1453_1464delinsTTT | p.L485_T488delinsF | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140778044_140778055delinsAAA | c.1453_1464delinsTTT | p.L485_T488delinsF | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| BRAF L485_T488delinsF | Advanced Solid Tumor | predicted - sensitive | Sorafenib | Preclinical - Biochemical | Actionable | In a preclinical study, Nexavar (sorafenib) inhibited ERK and MEK signaling in cells expressing BRAF L485_T488delinsF in culture (PMID: 37656784). | 37656784 |
| BRAF L485_T488delinsF | Advanced Solid Tumor | predicted - sensitive | LXH 254 | Preclinical - Biochemical | Actionable | In a preclinical study, LXH 254 inhibited ERK and MEK signaling in cells expressing BRAF L485_T488delinsF in culture (PMID: 37656784). | 37656784 |
| BRAF L485_T488delinsF | Advanced Solid Tumor | predicted - resistant | Dabrafenib | Preclinical - Biochemical | Actionable | In a preclinical study, cells expressing BRAF L485_T488delinsF were resistant to Tafinlar (dabrafenib)-induced inhibition of ERK and MEK signaling in culture (PMID: 37656784). | 37656784 |