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Gene | BRAF |
Variant | D380H |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BRAF D380H does not lie within any known functional domains of the Braf protein (UniProt.org). D380H has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Braf in culture (PMID: 29533785), and therefore, is predicted to have no effect on Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF D380H |
Transcript | NM_004333.6 |
gDNA | chr7:g.140794310C>G |
cDNA | c.1138G>C |
Protein | p.D380H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378469.1 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
XM_017012559 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
XM_017012559.1 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
XM_017012558.1 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
XM_017012558 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
XM_047420768.1 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140794310C>G | c.1138G>C | p.D380H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF D380H | no effect - predicted |