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Gene | BRAF |
Variant | N581Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF N581Y lies within the protein kinase domain of the Braf protein (UniProt.org). N581Y results in increased cell viability in culture (PMID: 32540409), but has not been fully biochemically characterized and therefore, its effect on Braf protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF N581X BRAF N581Y |
Transcript | NM_004333.6 |
gDNA | chr7:g.140754187T>A |
cDNA | c.1741A>T |
Protein | p.N581Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005250045 | chr7:g.140754187T>A | c.1741A>T | p.N581Y | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140754187T>A | c.1741A>T | p.N581Y | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140754187T>A | c.1741A>T | p.N581Y | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140754187T>A | c.1741A>T | p.N581Y | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140754187T>A | c.1741A>T | p.N581Y | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140754187T>A | c.1741A>T | p.N581Y | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140754187T>A | c.1741A>T | p.N581Y | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140754187T>A | c.1741A>T | p.N581Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF N581Y | colon cancer | resistant | GDC0879 | Preclinical - Cell culture | Actionable | In a preclinical study, colon cancer cells harboring BRAF N581Y were resistant to GDC0879 induced growth inhibition in culture (PMID: 19276360). | 19276360 |