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Gene | BRAF |
Variant | S637* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRAF S637* results in a premature truncation the Braf protein at amino acid 637 of 766 (UniProt.org). S637* has not been biochemically characterized, however, demonstrates an inability to induce cell viability and proliferation in cell culture (PMID: 29533785), and therefore, is predicted to lead to a loss of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF inact mut BRAF S637* |
Transcript | NM_004333.6 |
gDNA | chr7:g.140749369G>T |
cDNA | c.1910C>A |
Protein | p.S637* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354609.2 | chr7:g.140749369G>T | c.1910C>A | p.S637* | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140749369G>T | c.1910C>A | p.S637* | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140749369G>T | c.1910C>A | p.S637* | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140749369G>T | c.1910C>A | p.S637* | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140749369G>T | c.1910C>A | p.S637* | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140749369G>T | c.1910C>A | p.S637* | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140749377_140749379delAGCinsTGA | c.1909_1911delAGCinsTGA | p.S637* | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140749369G>T | c.1910C>A | p.S637* | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140749369G>T | c.1910C>A | p.S637* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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