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Gene MAP2K1
Variant I103N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 I103N lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I103N confers a gain of function to the Map2k1 protein as demonstrated by elevated basal kinase activity in an in vitro assay (PMID: 12370306), increased Map2k1 autophosphorylation (PMID: 29753091), and transformation activity in cell culture and increased proliferation in a competition assay (PMID: 36442478), and is also associated with resistance to Mek inhibitors (PMID: 12370306, PMID: 19915144).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 I103N

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Transcript NM_002755.4
gDNA chr15:g.66436762T>A
cDNA c.308T>A
Protein p.I103N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411 chr15:g.66436762T>A c.308T>A p.I103N RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436762T>A c.308T>A p.I103N RefSeq GRCh38/hg38
NM_002755 chr15:g.66436762T>A c.308T>A p.I103N RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436762T>A c.308T>A p.I103N RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436762T>A c.308T>A p.I103N RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436762T>A c.308T>A p.I103N 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 I103N melanoma resistant PD-0325901 Preclinical - Cell culture Actionable In a preclinical study, overexpression of MAP2K1 I103N in melanoma cells harboring BRAF V600E resulted in insensitivity to growth inhibition by PD-0325901 in cell culture (PMID: 26267534). 26267534
BRAF V600E MAP2K1 I103N melanoma sensitive DEL-22379 Preclinical - Cell culture Actionable In a preclinical study, DEL-22379 inhibited growth of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 I103N in culture (PMID: 26267534). 26267534
BRAF V600E MAP2K1 I103N melanoma resistant Selumetinib Preclinical - Cell culture Actionable In a preclinical study, expression of MAP2K1 I103N in melanoma cells harboring BRAF V600E conferred resistance to Koselugo (selumetinib) treatment in culture (PMID: 19915144). 19915144
BRAF V600E MAP2K1 I103N melanoma resistant CI-1040 Preclinical - Cell culture Actionable In a preclinical study, expression of MAP2K1 I103N in melanoma cells harboring BRAF V600E conferred resistance to CI-1040 (PD184352) treatment in culture (PMID: 19915144). 19915144
BRAF V600E MAP2K1 I103N melanoma resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 I103N was resistant to Zelboraf (vemurafenib) in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 I103N melanoma resistant Dabrafenib Preclinical - Cell culture Actionable In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 I103N was resistant to Tafinlar (dabrafenib) in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 I103N melanoma resistant Encorafenib Preclinical - Cell culture Actionable In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 I103N was resistant to Braftovi (encorafenib) in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 I103N melanoma sensitive Cobimetinib + Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, the combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) synergistically inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 I103N in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 I103N 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 I103N in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 I103N 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 I103N in culture (PMID: 36442478). 36442478