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Gene | MAP2K1 |
Variant | E203K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 E203K lies within the protein kinase domain of the Map2k1 protein (UniProt.org). E203K confers a gain of function to the Map2k1 protein as demonstrated by constitutive Erk phosphorylation (PMID: 22197931, PMID: 29483135) and cell transformation in culture (PMID: 22197931), and is associated with drug resistance in the context of BRAF V600E in culture (PMID: 28986383). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 E203K |
Transcript | NM_002755.4 |
gDNA | chr15:g.66481793G>A |
cDNA | c.607G>A |
Protein | p.E203K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66481793G>A | c.607G>A | p.E203K | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66481793G>A | c.607G>A | p.E203K | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66481793G>A | c.607G>A | p.E203K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 E203K | Advanced Solid Tumor | sensitive | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 E203K in culture (PMID: 36442478). | 36442478 |
MAP2K1 E203K | Advanced Solid Tumor | predicted - sensitive | SCH772984 | Preclinical - Biochemical | Actionable | In a preclinical study, SCH772984 inhibited downstream signaling in transformed cells expressing MAP2K1 E203K in culture (PMID: 32641410). | 32641410 |