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Gene | BRAF |
Variant | K601T |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF K601T lies within the activation segment in the kinase domain of the Braf protein (PMID: 15343278). K601T results in increased Braf kinase activity in cell culture (PMID: 28783719), and in one of two cell lines increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785), and therefore, is predicted to lead to a gain of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF K601T BRAF mutant BRAF K601X BRAF K601T |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753333T>G |
cDNA | c.1802A>C |
Protein | p.K601T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF K601T | Advanced Solid Tumor | resistant | Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, Zelboraf (vemurafenib) did not inhibit MEK and ERK activation in transformed cells over expressing the constitutively dimerized BRAF K601T (PMID: 26343582). | 26343582 |