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
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 Q58_E62del

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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_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
NM_002755 chr15:g.66435119_66435133del15 c.173_187del15 p.Q58_E62delQKVGE 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_017022411.2 chr15:g.66435119_66435133del15 c.173_187del15 p.Q58_E62delQKVGE RefSeq GRCh38/hg38
XM_017022413 chr15:g.66484996_66485010del15 c.172_186del15 p.R58_T62delRLQGT RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435185_66435199del15 c.173_187del15 p.G58_K62delGVVFK RefSeq GRCh38/hg38
XM_017022412 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 Q58_E62del Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 Q58_E62del in culture (PMID: 36442478). 36442478