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| Gene | BRAF |
| Variant | I592_A598dup |
| Impact List | duplication |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRAF I592_A598dup indicates the insertion of seven duplicate amino acids, isoleucine (I)-592 through alanine (A)-598, in the protein kinase domain of the Braf protein (UniProt.org). I592_A598dup has been identified in sequencing studies (PMID: 27571181, PMID: 29615459), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF I592_A598dup |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753341_140753361 |
| cDNA | c.1774_1794 |
| Protein | p.I592_A598 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378474.1 | chr7:g.140753341_140753361 | c.1774_1794 | p.I592_A598 | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753341_140753361 | c.1774_1794 | p.I592_A598 | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140753359_140753360insGCAAGACCAAAGTCACCGATT | c.1776_1777insATCGGTGACTTTGGTCTTGCA | p.I592_A598dup | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753341_140753361 | c.1774_1794 | p.I592_A598 | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753341_140753361 | c.1774_1794 | p.I592_A598 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|