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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 |
Transcript | NM_004333.6 |
gDNA | chr7:g.140754206G>T |
cDNA | c.1722C>A |
Protein | p.H574Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |