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Gene | BRAF |
Variant | L597Q |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF L597Q lies within the protein kinase domain of the Braf protein (UniProt.org). L597Q results in activation of Braf as indicated by increased phosphorylation of Mek and Erk in cell culture (PMID: 22798288) and induces cell proliferation and cell viability in culture (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF L597Q BRAF mutant BRAF L597X BRAF L597Q |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753345A>T |
cDNA | c.1790T>A |
Protein | p.L597Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378474.1 | chr7:g.140753345A>T | c.1790T>A | p.L597Q | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753345A>T | c.1790T>A | p.L597Q | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753345A>T | c.1790T>A | p.L597Q | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140749333_140749334delTTinsCA | c.1789_1790delTTinsCA | p.L597Q | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753345A>T | c.1790T>A | p.L597Q | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753345A>T | c.1790T>A | p.L597Q | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753345A>T | c.1790T>A | p.L597Q | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753345A>T | c.1790T>A | p.L597Q | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140753345A>T | c.1790T>A | p.L597Q | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140749333_140749334delTTinsCA | c.1789_1790delTTinsCA | p.L597Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF L597Q FGFR2 H167_N173del FGFR2 L618F | intrahepatic cholangiocarcinoma | predicted - resistant | Futibatinib | Case Reports/Case Series | Actionable | In a clinical case study, acquisition of BRAF L597Q was identified in an intrahepatic cholangiocarcinoma patient harboring FGFR2 H167_N173del and FGFR2 L618F who developed resistance to treatment with Lytgobi (futibatinib) (PMID: 33926920). | 33926920 |
BRAF L597Q FGFR2 H167_N173del FGFR2 L618F | intrahepatic cholangiocarcinoma | no benefit | LY3214996 | Case Reports/Case Series | Actionable | In a clinical case study, LY3214996 treatment led to progressive disease after 2 months in an intrahepatic cholangiocarcinoma patient harboring BRAF L597Q, FGFR2 H167_N173del, and FGFR2 L618F (PMID: 33926920). | 33926920 |
BRAF L597Q FGFR2 H167_N173del FGFR2 N550K FGFR2 L618F NRAS Q61K | intrahepatic cholangiocarcinoma | predicted - resistant | LY3214996 | Case Reports/Case Series | Actionable | In a clinical case study, acquired NRAS Q61K and FGFR2 N550K mutations were identified following progression on LY3214996 in an intrahepatic cholangiocarcinoma patient harboring BRAF L597Q, FGFR2 H167_N173del, and FGFR2 L618F (PMID: 33926920). | 33926920 |