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 | V681I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BRAF V681I lies within the protein kinase domain of the Braf protein (UniProt.org). V681I 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 V681I |
Transcript | NM_004333.6 |
gDNA | chr7:g.140739898C>T |
cDNA | c.2041G>A |
Protein | p.V681I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378474.1 | chr7:g.140739898C>T | c.2041G>A | p.V681I | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140739898C>T | c.2041G>A | p.V681I | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140739898C>T | c.2041G>A | p.V681I | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140739898C>T | c.2041G>A | p.V681I | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140739898C>T | c.2041G>A | p.V681I | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140739898C>T | c.2041G>A | p.V681I | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140739898C>T | c.2041G>A | p.V681I | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140739898C>T | c.2041G>A | p.V681I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|