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Gene BRAF
Variant H574Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF H574Q lies within the protein kinase domain of the Braf protein (UniProt.org). H574Q confers a gain of function to the Braf protein as indicated by increased Erk phosphorylation in culture and tumor formation in animal models, and confers resistance to Egfr inhibitors in culture (PMID: 27478040).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF H574Q

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Transcript NM_004333.6
gDNA chr7:g.140754206G>T
cDNA c.1722C>A
Protein p.H574Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140754206G>T c.1722C>A p.H574Q RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140754206G>T c.1722C>A p.H574Q RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140754206G>T c.1722C>A p.H574Q RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140753311A>T c.1722T>A p.H574Q RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140754206G>T c.1722C>A p.H574Q RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140754206G>T c.1722C>A p.H574Q RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140754206G>T c.1722C>A p.H574Q RefSeq GRCh38/hg38
NM_004333 chr7:g.140754206G>T c.1722C>A p.H574Q RefSeq GRCh38/hg38
XM_005250045 chr7:g.140754206G>T c.1722C>A p.H574Q RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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