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Gene | BRAF |
Variant | N581K |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRAF N581K lies within the protein kinase domain of the Braf protein (UniProt.org). N581K has not been biochemically characterized, but demonstrates decreased transformation ability in cell culture (PMID: 29533785), and is therefore predicted to confer a loss of function to the Braf protein. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF N581X BRAF N581K BRAF mutant BRAF inact mut BRAF N581K |
Transcript | NM_004333.5 |
gDNA | chr7:g.140753392A>C |
cDNA | c.1743T>G |
Protein | p.N581K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333.5 | chr7:g.140753392A>C | c.1743T>G | p.N581K | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753392A>C | c.1743T>G | p.N581K | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140753392A>C | c.1743T>G | p.N581K | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753392A>C | c.1743T>G | p.N581K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF N581K | loss of function - predicted |