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Gene MAP2K1
Variant V60E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 V60E does not lie within any known functional domains of the Map2k1 protein (UniProt.org). V60E confers a gain of function to Map2k1 as demonstrated by increased Erk signaling (PMID: 28263969), transformation activity in cultured cells and increased proliferation in a competition assay (PMID: 36442478), and tumor formation in orthotopic mouse models (PMID: 28263969), and demonstrates resistance to some Braf inhibitors (PMID: 24265153, PMID: 28263969, PMID: 36442478).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 V60E

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Transcript NM_002755.4
gDNA chr15:g.66435125T>A
cDNA c.179T>A
Protein p.V60E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011521783 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_002755 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022412 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 V60E melanoma resistant Trametinib Preclinical Actionable In a preclinical study, a melanoma cell line expressing MAP2K1 V60E demonstrated resistance to Mekinist (trametinib) in culture (PMID: 24265153). 24265153
MAP2K1 V60E melanoma resistant Dabrafenib Preclinical Actionable In a preclinical study, a melanoma cell line expressing MAP2K1 V60E demonstrated resistance to Tafinlar (dabrafenib) in culture (PMID: 24265153). 24265153
MAP2K1 V60E Advanced Solid Tumor sensitive Trametinib Preclinical - Biochemical Actionable In a preclinical study, Mekinist (trametinib) inhibited Erk phosphorylation in transformed cells expressing MAP2K1 V60E in culture (PMID: 32641410). 32641410
MAP2K1 V60E Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 V60E in culture (PMID: 36442478). 36442478