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Gene | MAP2K1 |
Variant | K59del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 K59del results in the deletion of an amino acid in the protein kinase domain of the Map2k1 protein at amino acid 59 (UniProt.org). K59del results in increased Mek and Erk phosphorylation in culture (PMID: 22389471), but demonstrates autophosphorylation levels similar to wild-type Map2k1 in another study (PMID: 29753091), and therefore, its effect on Map2k1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 K59del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435121_66435123delAAG |
cDNA | c.175_177delAAG |
Protein | p.K59delK |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022413 | chr15:g.66485000_66485002delTCC | c.176_178delTCC | p.L59delL | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66435190_66435192delGTG | c.178_180delGTG | p.V60delV | RefSeq | GRCh38/hg38 |
XM_011521783.3 | chr15:g.66435190_66435192delGTG | c.178_180delGTG | p.V60delV | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66435121_66435123delAAG | c.175_177delAAG | p.K59delK | RefSeq | GRCh38/hg38 |
XM_017022412.1 | chr15:g.66435190_66435192delGTG | c.178_180delGTG | p.V60delV | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66435121_66435123delAAG | c.175_177delAAG | p.K59delK | RefSeq | GRCh38/hg38 |
XM_017022413.1 | chr15:g.66485000_66485002delTCC | c.176_178delTCC | p.L59delL | RefSeq | GRCh38/hg38 |
XM_017022412 | chr15:g.66435190_66435192delGTG | c.178_180delGTG | p.V60delV | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435121_66435123delAAG | c.175_177delAAG | p.K59delK | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66435121_66435123delAAG | c.175_177delAAG | p.K59delK | RefSeq | GRCh38/hg38 |
XM_011521783 | chr15:g.66435190_66435192delGTG | c.178_180delGTG | p.V60delV | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435121_66435123delAAG | c.175_177delAAG | p.K59delK | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66435121_66435123delAAG | c.175_177delAAG | p.K59delK | RefSeq | GRCh38/hg38 |
NM_001411065.1 | chr15:g.66435190_66435192delGTG | c.178_180delGTG | p.V60delV | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF V600E MAP2K1 K59del | melanoma | resistant | Dabrafenib | Preclinical | Actionable | In a preclinical study, human melanoma cell lines harboring BRAF V600E and MAP2K1 K59del were resistant to Tafinlar (dabrafenib) mediated growth inhibition in culture (PMID: 22389471). | 22389471 |
BRAF V600E MAP2K1 K59del | melanoma | resistant | Vemurafenib | Preclinical | Actionable | In a preclinical study, human melanoma cell lines harboring BRAF V600E and MAP2K1 K59del were resistant to Zelboraf (vemurafenib) growth inhibition in culture (PMID: 22389471). | 22389471 |
BRAF V600E MAP2K1 K59del | melanoma | resistant | Trametinib | Preclinical | Actionable | In a preclinical study, human melanoma cell lines harboring BRAF V600E and MAP2K1 K59del were resistant to growth inhibition by Mekinist (trametinib) in culture (PMID: 22389471). | 22389471 |
BRAF V600E MAP2K1 K59del | melanoma | decreased response | GSK2126458 | Preclinical | Actionable | In a preclinical study, human melanoma cell lines harboring BRAF V600E and MAP2K1 K59del had reduced sensitivity to Omipalisib (GSK2126458) in comparison to parental cell lines harboring BRAF V600E in culture (PMID: 22389471). | 22389471 |
BRAF V600E MAP2K1 K59del | melanoma | sensitive | Dabrafenib + Trametinib | Preclinical | Actionable | In a preclinical study, Talfinlar (dabrafenib) in combination with Mekinist (trametinib) resulted in improved growth inhibition of human melanoma cell lines harboring BRAF V600E harboring MAP2K1 K59del in culture (PMID: 22389471). | 22389471 |
BRAF V600E MAP2K1 K59del | melanoma | sensitive | Dabrafenib + GSK2126458 | Preclinical | Actionable | In a preclinical study, Tafinlar (dabrafenib) in combination with Omipalisib (GSK2126458) resulted in improved growth inhibition of human melanoma cell lines harboring BRAF V600E and MAP2K1 K59del in culture, compared to either agent alone (PMID: 22389471). | 22389471 |
BRAF V600E MAP2K1 K59del | melanoma | sensitive | GSK2126458 + Trametinib | Preclinical | Actionable | In a preclinical study, Mekinist (trametinib) in combination with Omipalisib (GSK2126458) resulted in improved growth inhibition of human melanoma cell lines harboring BRAF V600E and MAP2K1 K59del in culture, compared to either agent alone (PMID: 22389471). | 22389471 |