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Gene | BRAF |
Variant | L597V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF L597V lies within the protein kinase domain of the Braf protein (UniProt.org). L597V results in activation of Braf as indicated by increased phosphorylation of Mek and Erk in cell culture (PMID: 22798288) and and induces cell proliferation and cell viability in culture (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF L597V BRAF mutant BRAF L597X BRAF L597V |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753346G>C |
cDNA | c.1789C>G |
Protein | p.L597V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333 | chr7:g.140753346G>C | c.1789C>G | p.L597V | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140749334A>C | c.1789T>G | p.L597V | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753346G>C | c.1789C>G | p.L597V | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753346G>C | c.1789C>G | p.L597V | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753346G>C | c.1789C>G | p.L597V | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753346G>C | c.1789C>G | p.L597V | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753346G>C | c.1789C>G | p.L597V | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753346G>C | c.1789C>G | p.L597V | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753346G>C | c.1789C>G | p.L597V | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140749334A>C | c.1789T>G | p.L597V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF L597V NRAS Q61K | lung non-small cell carcinoma | sensitive | AZ628 | Preclinical - Cell culture | Actionable | In a preclinical study, AZ628 inhibited proliferation of non-small cell lung cancer cells harboring both BRAF L597V and NRAS Q61K in culture (PMID: 27523909). | 27523909 |
BRAF L597V NRAS Q61K | lung non-small cell carcinoma | sensitive | TAK-632 | Preclinical - Cell culture | Actionable | In a preclinical study, TAK-632 inhibited proliferation of non-small cell lung cancer cells harboring both BRAF L597V and NRAS Q61K in culture (PMID: 27523909). | 27523909 |
BRAF L597V NRAS Q61K | lung non-small cell carcinoma | decreased response | PLX7904 | Preclinical - Cell culture | Actionable | In a preclinical study, non-small cell lung cancer cells harboring both BRAF L597V and NRAS Q61K demonstrated decreased sensitivity to PLX7904 in culture (PMID: 27523909). | 27523909 |
BRAF L597V NRAS Q61K | lung non-small cell carcinoma | decreased response | Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, non-small cell lung cancer cells harboring both BRAF L597V and NRAS Q61K demonstrated decreased sensitivity to Zelboraf (vemurafenib) in culture (PMID: 27523909). | 27523909 |
BRAF L597V NRAS Q61K | lung non-small cell carcinoma | decreased response | Dabrafenib | Preclinical - Cell culture | Actionable | In a preclinical study, non-small cell lung cancer cells harboring both BRAF L597V and NRAS Q61K demonstrated decreased sensitivity to Tafinlar (dabrafenib) in culture (PMID: 27523909). | 27523909 |
BRAF L597V NRAS Q61K | lung non-small cell carcinoma | sensitive | IHMT-RAF-128 | Preclinical - Cell culture | Actionable | In a preclinical study, IHMT-RAF-128 inhibited proliferation in a non-small cell lung cancer cell line harboring NRAS Q61K and BRAF L597V in culture (PMID: 37164118). | 37164118 |