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Gene | MAP2K1 |
Variant | P105_A106del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 P105_A106del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 105 to 106 (UniProt.org). P105_A106del results in increased phosphorylation of Mek and Erk relative to wild-type Map2k1 in cell culture (PMID: 30377225). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 P105_A106del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436767_66436772delCCCGCA |
cDNA | c.313_318delCCCGCA |
Protein | p.P105_A106delPA |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.2 | chr15:g.66436767_66436772delCCCGCA | c.313_318delCCCGCA | p.P105_A106delPA | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436767_66436772delCCCGCA | c.313_318delCCCGCA | p.P105_A106delPA | RefSeq | GRCh38/hg38 |
XM_011521783.3 | chr15:g.66436833_66436838delGTGGGC | c.313_318delGTGGGC | p.V105_G106delVG | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436767_66436772delCCCGCA | c.313_318delCCCGCA | p.P105_A106delPA | RefSeq | GRCh38/hg38 |
XM_011521783 | chr15:g.66436833_66436838delGTGGGC | c.313_318delGTGGGC | p.V105_G106delVG | RefSeq | GRCh38/hg38 |
XM_017022413 | chr15:g.66485138_66485143delGAGATG | c.314_319delGAGATG | p.G105_D106delGD | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66436833_66436838delGTGGGC | c.313_318delGTGGGC | p.V105_G106delVG | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436767_66436772delCCCGCA | c.313_318delCCCGCA | p.P105_A106delPA | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436767_66436772delCCCGCA | c.313_318delCCCGCA | p.P105_A106delPA | RefSeq | GRCh38/hg38 |
XM_017022412.1 | chr15:g.66436833_66436838delGTGGGC | c.313_318delGTGGGC | p.V105_G106delVG | RefSeq | GRCh38/hg38 |
NM_001411065.1 | chr15:g.66436833_66436838delGTGGGC | c.313_318delGTGGGC | p.V105_G106delVG | RefSeq | GRCh38/hg38 |
XM_017022413.1 | chr15:g.66485138_66485143delGAGATG | c.314_319delGAGATG | p.G105_D106delGD | RefSeq | GRCh38/hg38 |
XM_017022412 | chr15:g.66436833_66436838delGTGGGC | c.313_318delGTGGGC | p.V105_G106delVG | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436767_66436772delCCCGCA | c.313_318delCCCGCA | p.P105_A106delPA | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 P105_A106del | Advanced Solid Tumor | resistant | Trametinib | Preclinical - Biochemical | Actionable | In a preclinical study, transformed cells expressing MAP2K1 P105_A106del 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_A106del | Advanced Solid Tumor | resistant | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing MAP2K1 P105_A106del were resistant to Mekinist (trametinib) in culture (PMID: 36442478). | 36442478 |
MAP2K1 P105_A106del | Advanced Solid Tumor | predicted - sensitive | SCH772984 | Preclinical - Biochemical | Actionable | In a preclinical study, SCH772984 inhibited downstream signaling in transformed cells expressing MAP2K1 P105_A106del in culture (PMID: 32641410). | 32641410 |