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Gene | BRAF |
Variant | V504I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BRAF V504I lies within the protein kinase domain of the Braf protein (UniProt.org). V504I has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Braf (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF V504I |
Transcript | NM_004333.5 |
gDNA | chr7:g.140777998C>T |
cDNA | c.1510G>A |
Protein | p.V504I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005250045 | chr7:g.140777998C>T | c.1510G>A | p.V504I | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140777998C>T | c.1510G>A | p.V504I | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140777998C>T | c.1510G>A | p.V504I | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140777998C>T | c.1510G>A | p.V504I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF V504I | no effect - predicted |