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Gene | BRAF |
Variant | I592V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF I592V lies within the protein kinase domain of the Braf protein (UniProt.org). I592V has been identified in sequencing studies (PMID: 24710085, PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF I592V |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753361T>C |
cDNA | c.1774A>G |
Protein | p.I592V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333 | chr7:g.140753361T>C | c.1774A>G | p.I592V | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753361T>C | c.1774A>G | p.I592V | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140749349T>C | c.1774A>G | p.I592V | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753361T>C | c.1774A>G | p.I592V | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753361T>C | c.1774A>G | p.I592V | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140749349T>C | c.1774A>G | p.I592V | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753361T>C | c.1774A>G | p.I592V | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753361T>C | c.1774A>G | p.I592V | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753361T>C | c.1774A>G | p.I592V | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753361T>C | c.1774A>G | p.I592V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF I592V | unknown |