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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 results in increased Erk signaling in cultured cells and tumor formation in orthotopic mouse models (PMID: 28263969), and has been described as a drug resistance mutation (PMID: 24265153, PMID: 28263969). |
Associated Drug Resistance | Y |
Transcript | NM_002755.3 |
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_017022412 | 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 |
XM_017022411.2 | 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 |
XM_011521783 | chr15:g.66435191T>A | c.179T>A | p.V60E | RefSeq | GRCh38/hg38 |
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 |
BRAF V600E MAP2K1 V60E | melanoma | sensitive | VX-11e | Preclinical | Actionable | In a preclinical study, melanoma cells harboring BRAF V600E and expressing MAP2K1 V60E demonstrated sensitivity to treatment with VX-11e, resulting in decreased cell growth in culture (PMID: 24265153). | 24265153 |
BRAF V600E MAP2K1 V60E | melanoma | resistant | Dabrafenib | Preclinical | Actionable | In a preclinical study, melanoma cells harboring BRAF V600E and expressing MAP2K1 V60E demonstrated resistance to treatment with Tafinlar (dabrafenib) in culture, resulting in sustained Map2k1/2 and Erk1/2 phosphorylation (PMID: 24265153). | 24265153 |
BRAF V600X MAP2K1 V60E NRAS T58I NRAS Q61R | melanoma | predicted - resistant | Vemurafenib | Clinical Study - Cohort | Actionable | In a clinical study, a melanoma patient harboring a BRAF V600 mutation developed resistance-associated mutations, MAP2K1 V60E, NRAS T58I, and NRAS Q61R, after 18 weeks of treatment with Zelboraf (vemurafenib) (PMID: 24265153). | 24265153 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 V60E | gain of function | |
BRAF V600E MAP2K1 V60E | ||
BRAF V600X MAP2K1 V60E NRAS T58I NRAS Q61R |