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MAP2K1 F53L - Gene Variant Detail

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Gene MAP2K1
Variant F53L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 F53L lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). F53L results in activation of Map2k1 as indicated by increased Erk and Mek phosphorylation (PMID: 25164765, PMID: 29483135), increased Rsk phosphorylation (PMID: 25351745), transformation activity in culture (PMID: 25351745, PMID: 36442478), and increased proliferation in a competition assay (PMID: 36442478), and demonstrates resistance to some Mek and Braf inhibitors (PMID: 29753091, PMID: 36442478).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 F53L

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Transcript NM_002755.4
gDNA chr15:g.66435103T>C
cDNA c.157T>C
Protein p.F53L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.4 chr15:g.66435103T>C c.157T>C p.F53L RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435103T>C c.157T>C p.F53L RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435103T>C c.157T>C p.F53L RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435103T>C c.157T>C p.F53L RefSeq GRCh38/hg38
NM_002755 chr15:g.66435103T>C c.157T>C p.F53L RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435103T>C c.157T>C p.F53L RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600E MAP2K1 F53L melanoma resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 F53L was resistant to Zelboraf (vemurafenib) in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 F53L melanoma conflicting Trametinib Preclinical - Biochemical Actionable In a preclinical study, Mekinist (trametinib) inhibited Erk phosphorylation in a melanoma cell line harboring BRAF V600E and expressing MAP2K1 F53L in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 F53L melanoma conflicting Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited Mek but not Erk phosphorylation and did not inhibit proliferation in a melanoma cell line harboring BRAF V600E and expressing MAP2K1 F53L in culture (PMID: 36622773). 36622773
BRAF V600E MAP2K1 F53L melanoma resistant Dabrafenib Preclinical - Cell culture Actionable In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 F53L was resistant to Tafinlar (dabrafenib) in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 F53L melanoma resistant Dabrafenib Preclinical - Cell culture Actionable In a preclinical study, Tafinlar (dabrafenib) inhibited Erk and Mek phosphorylation but did not inhibit proliferation in a melanoma cell line harboring BRAF V600E and expressing MAP2K1 F53L in culture (PMID: 36622773). 36622773
BRAF V600E MAP2K1 F53L melanoma sensitive DS03090629 Preclinical - Cell culture Actionable In a preclinical study, DS03090629 inhibited Erk and Mek phosphorylation and proliferation in a melanoma cell line harboring BRAF V600E and expressing MAP2K1 F53L in culture (PMID: 36622773). 36622773
BRAF V600E MAP2K1 F53L melanoma resistant Encorafenib Preclinical - Cell culture Actionable In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 F53L was resistant to Braftovi (encorafenib) in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 F53L melanoma sensitive Dabrafenib + Trametinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Tafinlar (dabrafenib) and Mekinist (trametinib) synergistically inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 F53L in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 F53L melanoma sensitive Binimetinib + Encorafenib Preclinical - Cell culture Actionable In a preclinical study, the combination of Braftovi (encorafenib) and Mektovi (binimetinib) synergistically inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 F53L in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 F53L melanoma sensitive Cobimetinib + Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, the combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) synergistically inhibited viability in a melanoma cell line harboring BRAF V600E and expressing MAP2K1 F53L in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 F53L colorectal cancer predicted - resistant Binimetinib + Cetuximab + Encorafenib Case Reports/Case Series Actionable In a Phase III (BEACON CRC) trial, two patients with colorectal cancer harboring BRAF V600E progressed on the combination treatment of Braftovi (encorafenib), Mektovi (binimetinib), and Erbitux (cetuximab), and were found to have acquired MAP2K1 F53L in end-of-treatment ctDNA samples (PMID: 39313594; NCT02928224). 39313594