Gene Variant Detail

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Gene BRAF
Variant K601E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF K601E lies within the activation segment in the kinase domain of the Braf protein (PMID: 15343278). K601E results in increased Braf kinase activity and downstream activation of MEK and ERK in cell culture (PMID: 22798288, PMID: 28783719, PMID: 32059434), and induces cell proliferation and cell viability in culture (PMID: 29533785, PMID: 18697864).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF K601E

BRAF mutant BRAF K601X BRAF K601E

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Transcript NM_004333.6
gDNA chr7:g.140753334T>C
cDNA c.1801A>G
Protein p.K601E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF S363F BRAF K601E melanoma sensitive Encorafenib + Trametinib Preclinical - Cell culture Actionable In a preclinical study, the addition of Braftovi (encorafenib) to treatment with Mekinist (trametinib) resulted in increased growth inhibition in a melanoma cell line harboring BRAF K601E, as well as BRAF S363F, in culture (PMID: 29903896). 29903896
BRAF S363F BRAF K601E melanoma sensitive Encorafenib Preclinical - Cell culture Actionable In a preclinical study, Braftovi (encorafenib) inhibited growth of a melanoma cell line harboring BRAF K601E, as well as BRAF S363F, in culture (PMID: 29903896). 29903896
BRAF S363F BRAF K601E melanoma sensitive Dabrafenib + Trametinib Preclinical - Cell culture Actionable In a preclinical study, the addition of Tafinlar (dabrafenib) to treatment with Mekinist (trametinib) resulted in increased growth inhibition in a melanoma cell line harboring BRAF K601E, as well as BRAF S363F, in culture (PMID: 29903896). 29903896
BRAF S363F BRAF K601E melanoma sensitive Trametinib + Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, the addition of Zelboraf (vemurafenib) to treatment with Mekinist (trametinib) resulted in increased growth inhibition in a melanoma cell line harboring BRAF K601E, as well as BRAF S363F, in culture (PMID: 29903896). 29903896
BRAF S363F BRAF K601E melanoma sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited growth of a melanoma cell line harboring BRAF K601E, as well as BRAF S363F, in culture (PMID: 29903896). 29903896
BRAF S363F BRAF K601E melanoma sensitive Cobimetinib Preclinical - Cell culture Actionable In a preclinical study, Cotellic (cobimetinib) inhibited growth of a melanoma cell line harboring BRAF K601E, as well as BRAF S363F, in culture (PMID: 29903896). 29903896
BRAF S363F BRAF K601E melanoma sensitive Binimetinib Preclinical - Cell culture Actionable In a preclinical study, Mektovi (binimetinib) inhibited growth of a melanoma cell line harboring BRAF K601E, as well as BRAF S363F, in culture (PMID: 29903896). 29903896
BRAF K601E MAP2K1 V211D colon cancer predicted - resistant Binimetinib + Panitumumab Case Reports/Case Series Actionable In a clinical case study, a patient with metastatic colon cancer harboring BRAF K601E developed progressive disease after 6 weeks of Mektovi (binimetinib) and Vectibix (panitumumab) combination treatment, MAP2K1 V211D was identified as a co-occuring mutation in the biopsy from the new metastasis site (PMID: 31227518). 31227518
BRAF K601E MAP2K1 V211D colon cancer sensitive MAP855 Preclinical - Pdx Actionable In a preclinical study, MAP855 inhibited Rsk and Erk phosphorylation, and resulted in 30% tumor regression in patient-derived xenograft (PDX) models of metastatic colon cancer harboring BRAF K601E and MAP2K1 V211D (PMID: 31227518). 31227518
BRAF K601E MAP2K1 V211D colon cancer resistant Binimetinib Preclinical - Pdx Actionable In a preclinical study, Mektovi (binimetinib) did not inhibit Rsk and Erk phosphorylation, and had no effect on tumor growth in patient-derived xenograft (PDX) models of metastatic colon cancer harboring BRAF K601E and MAP2K1 V211D (PMID: 31227518). 31227518
BRAF K601E MAP2K1 V211D colon cancer resistant Binimetinib + Cetuximab Preclinical - Pdx Actionable In a preclinical study, Mektovi (binimetinib) and Erbitux (cetuximab) combination did not inhibit Rsk and Erk phosphorylation, and had no effect on tumor growth in patient-derived xenograft (PDX) models of metastatic colon cancer harboring BRAF K601E and MAP2K1 V211D (PMID: 31227518). 31227518