Gene Variant Detail

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Gene BRAF
Variant D287H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRAF D287H does not lie within any known functional domains of the Braf protein (UniProt.org). D287H results in impaired Braf kinase activity, but leads to Ras-dependent activation of Erk in cell culture (PMID: 26343582, PMID: 28783719).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF D287H

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Transcript NM_004333.6
gDNA chr7:g.140801413C>G
cDNA c.859G>C
Protein p.D287H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378468.1 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
XM_005250045 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140801422C>G c.859G>C p.D287H RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
XM_017012559 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
NM_004333 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
XM_017012558 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140801413C>G c.859G>C p.D287H RefSeq GRCh38/hg38

Filtering

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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