Gene Variant Detail

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Gene MAP2K1
Variant K57T
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 K57T lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). K57T confers a gain of function to Map2k1 as demonstrated by increased Erk1/2 phosphorylation (PMID: 30341394, PMID: 32641410) and transformation activity in cultured cells and increased proliferation in a competition assay (PMID: 36442478), and occurs as a secondary drug resistance mutation in the context of BRAF inhibitors (PMID: 26644315, PMID: 28819429, PMID: 30341394).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 K57T

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Transcript NM_002755.3
gDNA chr15:g.66435116A>C
cDNA c.170A>C
Protein p.K57T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411 chr15:g.66435116A>C c.170A>C p.K57T RefSeq GRCh38/hg38
NM_002755 chr15:g.66435116A>C c.170A>C p.K57T RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435116A>C c.170A>C p.K57T RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435116A>C c.170A>C p.K57T RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 K57T colorectal cancer predicted - resistant Cetuximab Case Reports/Case Series Actionable In a clinical case study, a patient with colorectal cancer developed liver metastases harboring MAP2K1 K57T that were insensitive to Erbitux (cetuximab) treatment and the mutation was confirmed to cause resistance in human colorectal cancer cell lines in culture (PMID: 26644315). 26644315
MAP2K1 K57T colorectal cancer resistant Panitumumab Preclinical Actionable In a preclinical study, a colorectal cancer cell line expressing MAP2K1 K57T was resistant to Vectibix (panitumumab) in culture (PMID: 26644315). 26644315
MAP2K1 K57T colorectal cancer sensitive Cetuximab + Trametinib Preclinical Actionable In a preclinical study, Erbitux (cetuximab) and Mekinist (trametinib) inhibited colorectal cancer cell lines expressing MAP2K1 K57T in culture (PMID: 26644315). 26644315
MAP2K1 K57T colorectal cancer sensitive Panitumumab + Trametinib Case Reports/Case Series Actionable In a clinical case study, a combination of Vectibix (panitumumab) and Mekinist (trametinib) caused tumor regression in a patient’s colorectal cancer metastases harboring MAP2K1 K57T after being identified pre-clinically as a combination likely to inhibit MAP2K1 K57T expressing colorectal cancer (PMID: 26644315). 26644315
MAP2K1 K57T Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 K57T in culture (PMID: 36442478). 36442478