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Gene | MAP2K1 |
Variant | P105_I107delinsL |
Impact List | indel |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 P105_I107delinsL results in the deletion of three amino acids in the protein kinase domain of the Map2k1 protein from amino acids 105 to 107, combined with the insertion of a leucine (L) at the same site (UniProt.org). P105_I107delinsL results in increased Erk phosphorylation in cultured cells (PMID: 32641410), and therefore, is predicted to lead to a gain of Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 P105_I107delinsL |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436768_66436773delCCGCAA |
cDNA | c.314_319delCCGCAA |
Protein | p.P105_I107delinsL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66436768_66436773delCCGCAA | c.314_319delCCGCAA | p.P105_I107delinsL | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436768_66436773delCCGCAA | c.314_319delCCGCAA | p.P105_I107delinsL | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436768_66436773delCCGCAA | c.314_319delCCGCAA | p.P105_I107delinsL | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436768_66436773delCCGCAA | c.314_319delCCGCAA | p.P105_I107delinsL | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436768_66436773delCCGCAA | c.314_319delCCGCAA | p.P105_I107delinsL | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436768_66436773delCCGCAA | c.314_319delCCGCAA | p.P105_I107delinsL | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 P105_I107delinsL | Advanced Solid Tumor | decreased response | Trametinib | Preclinical - Biochemical | Actionable | In a preclinical study, transformed cells expressing MAP2K1 P105_I107delinsL were less sensitive to Mekinist (trametinib) compared to similar mutations in the negative regulatory domain of the Map2k1 protein in culture (PMID: 32641410). | 32641410 |
MAP2K1 P105_I107delinsL | Advanced Solid Tumor | predicted - sensitive | SCH772984 | Preclinical - Biochemical | Actionable | In a preclinical study, SCH772984 inhibited downstream signaling in transformed cells expressing MAP2K1 P105_I107delinsL in culture (PMID: 32641410). | 32641410 |