Gene Variant Detail

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Gene BRAF
Variant V459L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF V459L lies within the protein kinase domain of the Braf protein (UniProt.org). V459L results in impaired Braf kinase activity and leads to Ras-dependent activation of Erk in culture (PMID: 28783719), however, in two different cell lines, induces similar proliferation and viability as compared to wild-type Braf in culture (PMID: 29533785), and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF V459L

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Transcript NM_004333.6
gDNA chr7:g.140781633C>G
cDNA c.1375G>C
Protein p.V459L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.1 chr7:g.140781633C>G c.1375G>C p.V459L RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781633C>G c.1375G>C p.V459L RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140777075C>G c.1375G>C p.V459L RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781633C>G c.1375G>C p.V459L RefSeq GRCh38/hg38
NM_004333 chr7:g.140781633C>G c.1375G>C p.V459L RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781633C>G c.1375G>C p.V459L RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140777075C>G c.1375G>C p.V459L RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781633C>G c.1375G>C p.V459L RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781633C>G c.1375G>C p.V459L RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781633C>G c.1375G>C p.V459L RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781633C>G c.1375G>C p.V459L RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140781597C>G c.1375G>C p.V459L RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References