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Gene | MAP2K1 |
Variant | E102_I103del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 E102_I103del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 102 to 103 (UniProt.org). E102_I103del confers a gain of function to the Map2k1 protein as demonstrated by activity independent of Raf and increased phosphorylation of Mek and Erk relative to wild-type Map2k1 (PMID: 29483135), increased Erk phosphorylation (PMID: 32036070, PMID: 25202140) and Mek homodimerization in culture (PMID: 30377225), increased proliferation in a competition assay, and increased transformation activity in culture (PMID: 36442478). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 E102_I103del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436758_66436763delGAGATC |
cDNA | c.304_309delGAGATC |
Protein | p.E102_I103delEI |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022412.1 | chr15:g.66436824_66436829delCCGTAC | c.304_309delCCGTAC | p.P102_Y103delPY | RefSeq | GRCh38/hg38 |
XM_011521783 | chr15:g.66436824_66436829delCCGTAC | c.304_309delCCGTAC | p.P102_Y103delPY | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436758_66436763delGAGATC | c.304_309delGAGATC | p.E102_I103delEI | RefSeq | GRCh38/hg38 |
NM_001411065.1 | chr15:g.66436824_66436829delCCGTAC | c.304_309delCCGTAC | p.P102_Y103delPY | RefSeq | GRCh38/hg38 |
XM_017022413.1 | chr15:g.66485128_66485133delCAGGTG | c.304_309delCAGGTG | p.Q102_V103delQV | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436758_66436763delGAGATC | c.304_309delGAGATC | p.E102_I103delEI | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66436824_66436829delCCGTAC | c.304_309delCCGTAC | p.P102_Y103delPY | RefSeq | GRCh38/hg38 |
XM_017022413 | chr15:g.66485128_66485133delCAGGTG | c.304_309delCAGGTG | p.Q102_V103delQV | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436758_66436763delGAGATC | c.304_309delGAGATC | p.E102_I103delEI | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436758_66436763delGAGATC | c.304_309delGAGATC | p.E102_I103delEI | RefSeq | GRCh38/hg38 |
XM_017022412 | chr15:g.66436824_66436829delCCGTAC | c.304_309delCCGTAC | p.P102_Y103delPY | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436758_66436763delGAGATC | c.304_309delGAGATC | p.E102_I103delEI | RefSeq | GRCh38/hg38 |
XM_011521783.3 | chr15:g.66436824_66436829delCCGTAC | c.304_309delCCGTAC | p.P102_Y103delPY | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436758_66436763delGAGATC | c.304_309delGAGATC | p.E102_I103delEI | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF V600E MAP2K1 E102_I103del | melanoma | resistant | Binimetinib | Preclinical - Cell culture | Actionable | In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 E102_I103del was resistant to Mektovi (binimetinib) in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 E102_I103del | melanoma | resistant | Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 E102_I103del was resistant to Zelboraf (vemurafenib) in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 E102_I103del | melanoma | resistant | Dabrafenib | Preclinical - Cell culture | Actionable | In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 E102_I103del was resistant to Tafinlar (dabrafenib) in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 E102_I103del | melanoma | resistant | Encorafenib | Preclinical - Cell culture | Actionable | In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 E102_I103del was resistant to Braftovi (encorafenib) in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 E102_I103del | melanoma | sensitive | Cobimetinib + Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) synergistically inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 E102_I103del in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 E102_I103del | melanoma | sensitive | Dabrafenib + Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Tafinlar (dabrafenib) and Mekinist (trametinib) synergistically inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 E102_I103del in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 E102_I103del | melanoma | sensitive | Binimetinib + Encorafenib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Braftovi (encorafenib) and Mektovi (binimetinib) synergistically inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 E102_I103del in culture (PMID: 36442478). | 36442478 |