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Gene BRAF
Variant G474R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF G474R lies within the protein kinase domain of the Braf protein (UniProt.org). G474R results in a loss of downstream phosphorylation in culture, loss of kinase activity in in vitro analyses, and does not lead to downstream phosphorylation when co-expressed with Craf but does lead to TSH-induced proliferation in culture (PMID: 18697864), and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF G474R

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Transcript NM_004333.6
gDNA chr7:g.140781588C>T
cDNA c.1420G>A
Protein p.G474R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140781588C>T c.1420G>A p.G474R RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781588C>T c.1420G>A p.G474R RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781588C>T c.1420G>A p.G474R RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781588C>T c.1420G>A p.G474R RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781588C>T c.1420G>A p.G474R RefSeq GRCh38/hg38

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