Gene Variant Detail

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Gene BRAF
Variant L505H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L505H lies within the protein kinase domain of the Braf protein (UniProt.org). L505H confers a gain of function to the Braf protein resulting in MEK/ERK activation and oncogenic transformation in cultured cells, and is associated with resistance to RAF inhibitors (PMID: 24283590).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF L505H

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Transcript NM_004333.5
gDNA chr7:g.140777994A>T
cDNA c.1514T>A
Protein p.L505H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
XM_005250045 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF L505H melanoma resistant Vemurafenib Preclinical Actionable In a preclinical study, melanoma cells expressing BRAF L505H were resistant to Zelboraf (vemurafenib) (PMID: 24283590). 24283590
BRAF L505H Advanced Solid Tumor predicted - resistant Vemurafenib Preclinical - Biochemical Actionable In a preclinical study, cells expressing BRAF L505H were resistant to treatment with Zelboraf (vemurafenib) in culture (PMID: 34108213). 34108213
BRAF L505H Advanced Solid Tumor predicted - resistant PLX8394 Preclinical - Biochemical Actionable In a preclinical study, cells expressing BRAF L505H were resistant to treatment with PLX8394 in culture (PMID: 34108213). 34108213
BRAF L505H Advanced Solid Tumor predicted - resistant Dabrafenib Preclinical - Biochemical Actionable In a preclinical study, cells expressing BRAF L505H were resistant to treatment with Tafinlar (dabrafenib) in culture (PMID: 34108213). 34108213
BRAF L505H Advanced Solid Tumor predicted - resistant LY3009120 Preclinical - Biochemical Actionable In a preclinical study, cells expressing BRAF L505H were resistant to treatment with LY3009120 in culture (PMID: 34108213). 34108213