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Gene | BRAF |
Variant | G593V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF G593V lies within the protein kinase domain of the Braf protein (UniProt.org). G593V is associated with EGFR inhibitor resistance in the context of an EGFR exon 19 deletion (PMID: 38838224), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
BRAF mutant BRAF G593V |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753357C>A |
cDNA | c.1778G>T |
Protein | p.G593V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378468.1 | chr7:g.140753357C>A | c.1778G>T | p.G593V | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753357C>A | c.1778G>T | p.G593V | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753357C>A | c.1778G>T | p.G593V | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753357C>A | c.1778G>T | p.G593V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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