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Gene MAP2K1
Variant F129L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 F129L lies within the protein kinase domain of the Map2k1 protein (UniProt.org). F129L confers a gain of function to the Map2k1 protein as demonstrated by increased kinase activity compared to wild-type, activation of downstream Erk signaling, and increased binding affinity to c-Raf (PMID: 21705440) and also demonstrates resistance to some Mek and Braf inhibitors (PMID: 29753091).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 F129L

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Transcript NM_002755.4
gDNA chr15:g.66436839T>C
cDNA c.385T>C
Protein p.F129L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66436839T>C c.385T>C p.F129L RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436839T>C c.385T>C p.F129L RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436839T>C c.385T>C p.F129L RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436839T>C c.385T>C p.F129L RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436839T>C c.385T>C p.F129L RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436839T>C c.385T>C p.F129L RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 F129L ovarian serous carcinoma resistant Trametinib Preclinical - Cell culture Actionable In a preclinical study, MAP2K1 F129L was identified in a low grade serous ovarian cancer cell line that developed resistance to treatment with Mekinist (trametinib) in culture (PMID: 36198031). 36198031
MAP2K1 F129L Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 F129L in culture (PMID: 36442478). 36442478
MAP2K1 F129L Advanced Solid Tumor resistant AZD8330 Preclinical - Cell culture Actionable In a preclinical study, Map2k1 F129L displayed resistance to the Mek inhibitor, AZD8330, as demonstrated by constitutive activation of Map2k1 in transformed human kidney cells (PMID: 29753091). 29753091
MAP2K1 F129L ovarian serous carcinoma resistant Binimetinib Preclinical - Cell culture Actionable In a preclinical study, a low grade serous ovarian cancer cell line harboring MAP2K1 F129L was resistant to treatment with Mektovi (binimetinib) in culture (PMID: 36198031). 36198031
MAP2K1 F129L ovarian serous carcinoma resistant Refametinib Preclinical - Cell culture Actionable In a preclinical study, a low grade serous ovarian cancer cell line harboring MAP2K1 F129L was resistant to treatment with Refametinib (BAY86-9766) in culture (PMID: 36198031). 36198031
MAP2K1 F129L Advanced Solid Tumor resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Map2k1 F129L displayed resistance to Stivarga (regorafenib; BAY 73-4506), as demonstrated by constitutive activation of Map2k1 in transformed human kidney cells (PMID: 29753091). 29753091
MAP2K1 F129L ovarian serous carcinoma resistant Selumetinib Preclinical - Cell culture Actionable In a preclinical study, a low grade serous ovarian cancer cell line harboring MAP2K1 F129L was resistant to treatment with Koselugo (selumetinib) in culture (PMID: 36198031). 36198031
MAP2K1 F129L Advanced Solid Tumor sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Map2k1 F129L displayed sensitivity to the Mek inhibitor, Selumetinib (AZD6244), as demonstrated by reversal of active Map2k1 in transformed human kidney cells (PMID: 29753091). 29753091
MAP2K1 F129L Advanced Solid Tumor sensitive PLX4720 Preclinical - Cell culture Actionable In a preclinical study, Map2k1 F129L displayed sensitivity to the Braf inhibitor, PLX4720, as demonstrated by reversal of active Map2k1 in transformed human kidney cells (PMID: 29753091). 29753091
MAP2K1 F129L Advanced Solid Tumor resistant GDC0879 Preclinical - Cell culture Actionable In a preclinical study, Map2k1 F129L displayed resistance to the Braf inhibitor, GDC-0879, as demonstrated by constitutive activation of Map2k1 in transformed human kidney cells (PMID: 29753091). 29753091
MAP2K1 F129L Advanced Solid Tumor resistant PD98059 Preclinical - Cell culture Actionable In a preclinical study, Map2k1 F129L displayed resistance to the Mek inhibitor, PD98059, as demonstrated by constitutive activation of Map2k1 in transformed human kidney cells (PMID: 29753091). 29753091
MAP2K1 F129L colorectal cancer sensitive RO4927350 Preclinical - Cell line xenograft Actionable In a preclinical study, a colorectal cancer cell line harboring MAP2K1 F129L demonstrated sensitivity to treatment with RO4927350 in culture and in cell line xenograft models, demonstrating inhibition of tumor growth (PMID: 21705440). 21705440