Gene Variant Detail

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Gene BRAF
Variant V47_D380del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF V47_D380del results in the deletion of 334 amino acids of the Braf protein from amino acids 47 to 380 (UniProt.org). V47_D380del (reported as internal deletion of exons 2-8) has been associated with resistance to Mek inhibitors in a patient (PMID: 29171936), and is predicted to lead to a gain of Braf protein function due to the deletion of the CR1 autoinhibitory domain and preservation of the protein kinase domain (PMID: 23890088, PMID: 22113612).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF V47_D380del

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Transcript NM_004333.5
gDNA chr7:g.140794308_140850212del55905
cDNA c.141_1140+2del55905
Protein p.V47_D380del334
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
XM_017012559 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
XM_017012558 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_004333 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38

Filtering

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  • 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 V47_D380del melanoma predicted - resistant Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, a melanoma patient developed progressive disease after initial response to Tafinlar (dabrafenib) and Mekinist (trametinib) combination treatment, BRAF V47_D380del was identified as an acquired mutation in the progressing lesion along with mutations presented in both primary and progressing lesions, including BRAF V600E, PTEN G129E, CDKN2A/B loss, and TERT promoter mutations (PMID: 29171936). 29171936