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
Category Variants Paths

MAP2K1 mutant MAP2K1 K59del

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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
NM_002755 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK RefSeq GRCh38/hg38
XM_011521783.3 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
XM_017022411.3 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV 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
XM_017022413 chr15:g.66485000_66485002delTCC c.176_178delTCC p.L59delL RefSeq GRCh38/hg38
NM_001411065.1 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
NM_002755.4 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_017022412 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485000_66485002delTCC c.176_178delTCC p.L59delL RefSeq GRCh38/hg38

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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, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org). 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, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org). detail...