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Gene | BRAF |
Variant | T310I |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF T310I does not lie within any known functional domains of the Braf protein (UniProt.org). T310I is predicted to lead to a gain of Braf protein function as indicated by intermediate increase of Erk phosphorylation in culture, and is associated with resistance to Raf inhibitors (PMID: 31158244). |
Associated Drug Resistance | Y |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF T310I |
Transcript | NM_004333.6 |
gDNA | chr7:g.140800413G>A |
cDNA | c.929C>T |
Protein | p.T310I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005250045 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
XM_017012559 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
XM_017012558.1 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
XM_017012558 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
XM_017012559.1 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
XM_047420768.1 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140800413G>A | c.929C>T | p.T310I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF T310I | breast cancer | predicted - resistant | Dabrafenib | Preclinical | Actionable | In a preclinical study, Tafinlar (dabrafenib) treatment resulted in increased Erk phosphorylation in breast cancer cells expressing BRAF T310I in culture (PMID: 31158244). | 31158244 |