Gene Variant Detail

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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 in vitro (PMID: 29483135), enhanced Mek and Erk phosphorylation in cell culture (PMID: 28935960, PMID: 30377225).
Associated Drug Resistance

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Transcript NM_002755.3
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
NM_002755 chr15:g.66436761_66436766delATCAAA c.307_312delATCAAA p.I103_K104delIK RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485132_66485137delTGGAAG c.308_313delTGGAAG p.V103_E104delVE RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436761_66436766delATCAAA c.307_312delATCAAA p.I103_K104delIK RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436827_66436832delTACATC c.307_312delTACATC p.Y103_I104delYI RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436761_66436766delATCAAA c.307_312delATCAAA p.I103_K104delIK RefSeq GRCh38/hg38
XM_011521783 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_011521783.3 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
XM_017022411.2 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
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). 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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). detail...
Molecular Profile Protein Effect Treatment Approaches
MAP2K1 I103_K104del gain of function MEK inhibitor (Pan) MEK1 Inhibitor