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Gene | MAP2K1 |
Variant | F53C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 F53C lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). F53C confers a gain of function to Map2k1 as demonstrated by increased Erk1/2 phosphorylation (PMID: 30341394) and transformation activity in cultured cells and increased proliferation in a competition assay (PMID: 36442478), and is associated with resistance to BRAF inhibitors (PMID: 30341394, PMID: 36442478). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 F53C |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435104T>G |
cDNA | c.158T>G |
Protein | p.F53C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66435104T>G | c.158T>G | p.F53C | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435104T>G | c.158T>G | p.F53C | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435104T>G | c.158T>G | p.F53C | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66435104T>G | c.158T>G | p.F53C | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66435104T>G | c.158T>G | p.F53C | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66435104T>G | c.158T>G | p.F53C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 F53C | Advanced Solid Tumor | sensitive | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 F53C in culture (PMID: 36442478). | 36442478 |
MAP2K1 F53C | lymphoma | predicted - resistant | Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, expression of MAP2K1 F53C in a lymphoma cell line conferred resistance to inhibition of Erk phosphorylation by Zelboraf (vemurafenib) in culture (PMID: 30341394). | 30341394 |