Gene Variant Detail

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Gene BRAF
Variant V600L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF V600L (previously reported as V599L) lies within the activation segment of the protein kinase domain of the Braf protein (PMID: 15035987). V600L results in increased cell proliferation and cell viability compared to wild-type Braf in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF V600X BRAF V600L

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Transcript NM_004333.6
gDNA chr7:g.140753337C>G
cDNA c.1798G>C
Protein p.V600L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140753337C>G c.1798G>C p.V600L RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753337C>G c.1798G>C p.V600L RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753337C>G c.1798G>C p.V600L RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753337C>G c.1798G>C p.V600L RefSeq GRCh38/hg38
NM_004333 chr7:g.140753337C>G c.1798G>C p.V600L RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753337C>G c.1798G>C p.V600L RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753337C>G c.1798G>C p.V600L RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753337C>G c.1798G>C p.V600L 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
BRAF V600L mucosal melanoma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, Mekinist (trametinib) and Tafinlar (dabrafenib) combination treatment resulted in complete remission in a patient with unresectable hypopharyngeal mucosal melanoma harboring BRAF V600L (PMID: 35709404). 35709404