Gene Variant Detail

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Gene BRAF
Variant G466A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF G466A (also reported as G465A) lies within the protein kinase domain of the Braf protein (UniProt.org). The functional effect of G466A (also reported as G465A) is conflicting as it has been characterized both as having intermediate Braf kinase activity (PMID: 15035987) and low Braf kinase activity (PMID: 28783719), leads to Ras-dependent activation of downstream Erk in cell culture (PMID: 28783719), and in one of two cell lines increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF G466X BRAF G466A

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Transcript NM_004333.6
gDNA chr7:g.140781611C>G
cDNA c.1397G>C
Protein p.G466A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_004333 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140778075C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140778000C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140777053C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140777053C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries