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Gene BRAF
Variant V47_M438del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF V47_M438del results in the deletion of 392 amino acids of the Braf protein from amino acids 47 to 438 (UniProt.org). V47_M438del (reported as internal deletion of exons 2-10) has been associated with acquired resistance to a Braf inhibitor in a patient (PMID: 32669268), 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, PMID: 29171936).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF V47_M438del

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Transcript NM_004333.6
gDNA chr7:g.140783022_140850213del67192
cDNA c.141_1314+2del67192
Protein p.V47_M438del392
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047420767.1 chr7:g.140783142_140850213del67072 c.139_1314del67072 p.V47_L438del392 RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140783142_140850213del67072 c.139_1314del67072 p.V47_L438del392 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140783022_140850213del67192 c.141_1314+2del67192 p.V47_M438del392 RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140778038_140834818del56781 c.139_1314del56781 p.L47_P438del392 RefSeq GRCh38/hg38
XM_017012559 chr7:g.140783142_140850213del67072 c.139_1314del67072 p.V47_L438del392 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140783022_140850213del67192 c.141_1314+2del67192 p.V47_M438del392 RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140777028_140850212del73185 c.139_1314del73185 p.V47_A438del392 RefSeq GRCh38/hg38
XM_005250045 chr7:g.140783022_140850213del67192 c.141_1314+2del67192 p.V47_M438del392 RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140781628_140850212del68585 c.139_1314del68585 p.V47_G438del392 RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140783022_140850213del67192 c.141_1314+2del67192 p.V47_M438del392 RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140783022_140850213del67192 c.141_1314+2del67192 p.V47_M438del392 RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140783142_140850213del67072 c.139_1314del67072 p.V47_L438del392 RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140783022_140850213del67192 c.141_1314+2del67192 p.V47_M438del392 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140783022_140850213del67192 c.141_1314+2del67192 p.V47_M438del392 RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140783142_140850213del67072 c.139_1314del67072 p.V47_L438del392 RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140783142_140850213del67072 c.139_1314del67072 p.V47_L438del392 RefSeq GRCh38/hg38
NM_004333 chr7:g.140783022_140850213del67192 c.141_1314+2del67192 p.V47_M438del392 RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140781592_140834872del53281 c.139_1314del53281 p.A47_Y438del392 RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140778038_140834818del56781 c.139_1314del56781 p.L47_P438del392 RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140781659_140834819del53161 c.139_1314del53161 p.L47_W438del392 RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140783031_140850213del67183 c.139_1314del67183 p.V47_R438del392 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140783022_140850213del67192 c.141_1314+2del67192 p.V47_M438del392 RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140783142_140850213del67072 c.139_1314del67072 p.V47_L438del392 RefSeq GRCh38/hg38
XM_017012558 chr7:g.140783142_140850213del67072 c.139_1314del67072 p.V47_L438del392 RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140783142_140850213del67072 c.139_1314del67072 p.V47_L438del392 RefSeq GRCh38/hg38
XM_047420770.1 chr7:g.140739911_140800369del60459 c.139_1314del60459 p.S47_P438del392 RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140781585_140850214del68630 c.139_1314del68630 p.V47_K438del392 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References