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Gene | BRAF |
Variant | L485W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF L485W lies within the protein kinase domain of the Braf protein (UniProt.org). L485W results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF L485X BRAF L485W |
Transcript | NM_004333.6 |
gDNA | chr7:g.140778054A>C |
cDNA | c.1454T>G |
Protein | p.L485W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378474.1 | chr7:g.140778054A>C | c.1454T>G | p.L485W | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140778054A>C | c.1454T>G | p.L485W | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140776996A>C | c.1454T>G | p.L485W | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140778054A>C | c.1454T>G | p.L485W | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140778054A>C | c.1454T>G | p.L485W | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140778054A>C | c.1454T>G | p.L485W | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140778054A>C | c.1454T>G | p.L485W | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140776996A>C | c.1454T>G | p.L485W | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140778054A>C | c.1454T>G | p.L485W | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140778054A>C | c.1454T>G | p.L485W | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140778054A>C | c.1454T>G | p.L485W | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF L485W | unknown |