Gene Variant Detail

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Gene BRAF
Variant G464E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF G464E (also reported as G463E) lies within the protein kinase domain of the Braf protein (UniProt.org). G464E results in increased Braf kinase activity and activation of MEK and ERK (PMID: 15035987, PMID: 23680146), and in one of two cell lines, increased cell proliferation and cell viability compared to wild-type Braf in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF G464E

BRAF mutant BRAF G464X BRAF G464E

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Transcript NM_004333.6
gDNA chr7:g.140781617C>T
cDNA c.1391G>A
Protein p.G464E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378468.1 chr7:g.140781617C>T c.1391G>A p.G464E RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781617C>T c.1391G>A p.G464E RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781617C>T c.1391G>A p.G464E RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781617C>T c.1391G>A p.G464E RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781617C>T c.1391G>A p.G464E RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781617C>T c.1391G>A p.G464E RefSeq GRCh38/hg38
NM_004333 chr7:g.140781617C>T c.1391G>A p.G464E RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781617C>T c.1391G>A p.G464E RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781617C>T c.1391G>A p.G464E RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF G464E sarcomatoid carcinoma no benefit Trametinib Case Reports/Case Series Actionable In a Phase II trial (NCI-MATCH), Mekinist (trametinib) treatment did not demonstrate clinical activity in patients with advanced solid tumors or lymphoma harboring BRAF fusion or non-V600 mutations, resulted in stable disease with a progression-free survival of 6.9 months in a patient with spindle cell carcinoma harboring a BRAF G464E (PMID: 31924734; NCT02465060). 31924734
BRAF G464E Advanced Solid Tumor resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, Zelboraf (vemurafenib) did not inhibit MEK and ERK activation in transformed cells over expressing the constitutively dimerized BRAF G464E (PMID: 26343582). 26343582
BRAF G464E melanoma predicted - sensitive PHI-501 Preclinical - Cell line xenograft Actionable In a preclinical study, PHI-501 inhibited growth and migration and induced apoptosis in a melanoma cell line harboring BRAF G464E in culture and inhibited tumor growth in a cell line xenograft model (Cancer Res (2023) 83 (7_Supplement): 1627). detail...
BRAF G464E melanoma sensitive SIJ777 Preclinical - Cell culture Actionable In a preclinical study, SIJ777 inhibited Mek, Erk, and Akt phosphorylation, proliferation, migration, invasion, and colony formation, and induced apoptosis in a melanoma cell line harboring BRAF G464E in culture (PMID: 33917428). 33917428