Gene Variant Detail

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Gene MAP2K1
Variant N109_Q110del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 N109_Q110del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 109 to 110 (UniProt.org). N109_Q110del results in increased Erk phosphorylation in cultured cells (PMID: 32641410), and therefore, is predicted to result in a gain of Map2k1 protein function.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 N109_Q110del

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Transcript NM_002755.3
gDNA chr15:g.66436780_66436785delACCAGA
cDNA c.326_331delACCAGA
Protein p.N109_Q110delNQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022412.1 chr15:g.66436845_66436850delGGTGCG c.325_330delGGTGCG p.G109_A110delGA RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485149_66485154delGAGACC c.325_330delGAGACC p.E109_T110delET RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436780_66436785delACCAGA c.326_331delACCAGA p.N109_Q110delNQ RefSeq GRCh38/hg38
NM_002755 chr15:g.66436780_66436785delACCAGA c.326_331delACCAGA p.N109_Q110delNQ RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436845_66436850delGGTGCG c.325_330delGGTGCG p.G109_A110delGA RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436845_66436850delGGTGCG c.325_330delGGTGCG p.G109_A110delGA RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436780_66436785delACCAGA c.326_331delACCAGA p.N109_Q110delNQ RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436845_66436850delGGTGCG c.325_330delGGTGCG p.G109_A110delGA RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485149_66485154delGAGACC c.325_330delGAGACC p.E109_T110delET RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436780_66436785delACCAGA c.326_331delACCAGA p.N109_Q110delNQ RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References