Gene Variant Detail

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Gene MAP2K1
Variant Q58_E62del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 Q58_E62del results in the deletion of five amino acids in the Map2k1 protein from amino acis 58 to 62 (UniProt.org). Q58_E62del confers a gain of function to the Map2k1 protein as demonstrated by increased Mek and Erk phosphorylation relative to wild-type Map2k1 (PMID: 26566875, PMID: 25202140, PMID: 28935960).
Associated Drug Resistance

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Transcript NM_002755.3
gDNA chr15:g.66435119_66435133del15
cDNA c.173_187del15
Protein p.Q58_E62delQKVGE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022412 chr15:g.66435185_66435199del15 c.173_187del15 p.G58_K62delGVVFK RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435185_66435199del15 c.173_187del15 p.G58_K62delGVVFK RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435119_66435133del15 c.173_187del15 p.Q58_E62delQKVGE RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66484996_66485010del15 c.172_186del15 p.R58_T62delRLQGT RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435119_66435133del15 c.173_187del15 p.Q58_E62delQKVGE RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435185_66435199del15 c.173_187del15 p.G58_K62delGVVFK RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66435185_66435199del15 c.173_187del15 p.G58_K62delGVVFK RefSeq GRCh38/hg38
XM_017022413 chr15:g.66484996_66485010del15 c.172_186del15 p.R58_T62delRLQGT RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435119_66435133del15 c.173_187del15 p.Q58_E62delQKVGE RefSeq GRCh38/hg38
NM_002755 chr15:g.66435119_66435133del15 c.173_187del15 p.Q58_E62delQKVGE RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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...
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...
Molecular Profile Protein Effect Treatment Approaches
MAP2K1 Q58_E62del gain of function MEK inhibitor (Pan) MEK1 Inhibitor