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Gene BRAF
Variant R509H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRAF R509H lies within the dimerization interface region of the Braf protein (PMID: 22510884). R509H confers a loss of function to the Braf protein, as demonstrated by decreased Braf dimerization and reduced ability to activate downstream Mek signaling in in vitro assays (PMID: 22510884).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF R509H

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Transcript NM_004333.6
gDNA chr7:g.140777079_140777080delGAinsAT
cDNA c.1526_1527delGAinsAT
Protein p.R509H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140777079_140777080delGAinsAT c.1526_1527delGAinsAT p.R509H RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140777079_140777080delGAinsAT c.1526_1527delGAinsAT p.R509H RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140777079_140777080delGAinsAT c.1526_1527delGAinsAT p.R509H RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140777079_140777080delGAinsAT c.1526_1527delGAinsAT p.R509H RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140777079_140777080delGAinsAT c.1526_1527delGAinsAT p.R509H RefSeq GRCh38/hg38
XM_005250045 chr7:g.140777079_140777080delTCinsAT c.1526_1527delGAinsAT p.R509H RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140777088_140777992delAGGinsCAT c.1525_1527delAGGinsCAT p.R509H RefSeq GRCh38/hg38
NM_004333 chr7:g.140777079_140777080delTCinsAT c.1526_1527delGAinsAT p.R509H RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140777079_140777080delGAinsAT c.1526_1527delGAinsAT p.R509H RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140777079_140777080delGAinsAT c.1526_1527delGAinsAT p.R509H RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries