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Gene MAP2K1
Variant I103_K104del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 I103_K104del results in the deletion of two amino acids in the Map2k1 protein from amino acids 103 to 104 (UniProt.org). I103_K104del confers a gain of function to the Map2k1 protein as demonstrated by activity independent of Raf and increased phosphorylation of Mek and Erk relative to wild-type Map2k1 (PMID: 29483135), increased Mek and Erk phosphorylation in culture (PMID: 28935960, PMID: 30377225), increased proliferation in a competition assay, and increased transformation activity in culture (PMID: 36442478).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 I103_K104del

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Transcript NM_002755.4
gDNA chr15:g.66436761_66436766delATCAAA
cDNA c.307_312delATCAAA
Protein p.I103_K104delIK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011521783.3 chr15:g.66436827_66436832delTACATC c.307_312delTACATC p.Y103_I104delYI RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436827_66436832delTACATC c.307_312delTACATC p.Y103_I104delYI RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485132_66485137delTGGAAG c.308_313delTGGAAG p.V103_E104delVE RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436761_66436766delATCAAA c.307_312delATCAAA p.I103_K104delIK RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436761_66436766delATCAAA c.307_312delATCAAA p.I103_K104delIK RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436761_66436766delATCAAA c.307_312delATCAAA p.I103_K104delIK RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436761_66436766delATCAAA c.307_312delATCAAA p.I103_K104delIK RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436761_66436766delATCAAA c.307_312delATCAAA p.I103_K104delIK RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66436827_66436832delTACATC c.307_312delTACATC p.Y103_I104delYI RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66436827_66436832delTACATC c.307_312delTACATC p.Y103_I104delYI RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436827_66436832delTACATC c.307_312delTACATC p.Y103_I104delYI RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436827_66436832delTACATC c.307_312delTACATC p.Y103_I104delYI RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485132_66485137delTGGAAG c.308_313delTGGAAG p.V103_E104delVE RefSeq GRCh38/hg38
NM_002755 chr15:g.66436761_66436766delATCAAA c.307_312delATCAAA p.I103_K104delIK RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 I103_K104del Advanced Solid Tumor predicted - sensitive SCH772984 Preclinical - Biochemical Actionable In a preclinical study, SCH772984 inhibited downstream signaling in transformed cells expressing MAP2K1 I103_K104del in culture (PMID: 32641410). 32641410
MAP2K1 I103_K104del Advanced Solid Tumor decreased response Trametinib Preclinical - Biochemical Actionable In a preclinical study, transformed cells expressing MAP2K1 I103_K104del were less sensitive to Mekinist (trametinib) compared to similar mutations in the negative regulatory domain of the Map2k1 protein in culture (PMID: 32641410). 32641410