Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | BRAF |
Variant | V47_G327del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF V47_G327del results in the deletion of 281 amino acids of the Braf protein from amino acids 47 to 327 (UniProt.org). V47_G327del (reported as internal deletion of exons 2-7) has not been characterized, however, due to the deletion of the CR1 autoinhibitory domain and preservation of the protein kinase domain (PMID: 23890088, PMID: 22113612, PMID: 29171936), is predicted to lead to a gain of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF V47_G327del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140794468_140850213del55746 |
cDNA | c.139_981del55746 |
Protein | p.V47_G327del281 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047420770.1 | chr7:g.140754233_140800369del46137 | c.140_982del46137 | p.S47_D327del281 | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140794311_140834818del40508 | c.139_981del40508 | p.L47_I327del281 | RefSeq | GRCh38/hg38 |
XM_047420766.1 | chr7:g.140794311_140834818del40508 | c.139_981del40508 | p.L47_I327del281 | RefSeq | GRCh38/hg38 |
XM_017012559.1 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
NM_001378470.1 | chr7:g.140794365_140834872del40508 | c.139_981del40508 | p.A47_D327del281 | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140800370_140850212del49843 | c.139_981del49843 | p.V47_D327del281 | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
XM_047420768.1 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140794311_140834818del40508 | c.139_981del40508 | p.L47_I327del281 | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
XM_017012559 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
NM_001378475.1 | chr7:g.140783090_140850212del67123 | c.139_981del67123 | p.V47_A327del281 | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
XM_017012558.1 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
XM_017012558 | chr7:g.140794468_140850213del55746 | c.139_981del55746 | p.V47_G327del281 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|