Gene Variant Detail

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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

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Transcript NM_002755.3
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_011521783.3 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_011521783 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV RefSeq GRCh38/hg38
XM_017022412.1 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_017022411.2 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_017022413 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
XM_017022411 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 + 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
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 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
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 mutant Erdheim-Chester disease sensitive Trametinib Guideline Actionable Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). detail...
MAP2K1 mutant Erdheim-Chester disease sensitive Cobimetinib Guideline Actionable Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). detail...
Molecular Profile Protein Effect Treatment Approaches
MAP2K1 K59del unknown MEK inhibitor (Pan) MEK1 Inhibitor
BRAF V600E MAP2K1 K59del