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Gene | MAP2K1 |
Variant | P124Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 P124Q lies within the protein kinase domain of the Map2k1 protein (UniProt.org). P124Q results in increased Erk1/2 phosphorylation in culture, and is associated with decreased sensitivity to Raf inhibition (PMID: 25370473), but demonstrates autophosphorylation and kinase activity similar to wild-type Map2k1 in another study (PMID: 29753091), and therefore, its effect on Map2k1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 P124Q |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436825C>A |
cDNA | c.371C>A |
Protein | p.P124Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66436825C>A | c.371C>A | p.P124Q | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436825C>A | c.371C>A | p.P124Q | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436825C>A | c.371C>A | p.P124Q | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436825C>A | c.371C>A | p.P124Q | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436825C>A | c.371C>A | p.P124Q | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436825C>A | c.371C>A | p.P124Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF V600K MAP2K1 P124Q | melanoma | decreased response | Dabrafenib | Preclinical - Cell culture | Actionable | In a preclinical study, a melanoma cell line harboring BRAF V600K and MAP2K1 P124Q demonstrated decreased sensitivity to Tafinlar (dabrafenib) in culture (PMID: 25370473). | 25370473 |
BRAF V600K MAP2K1 P124Q | melanoma | sensitive | VX-11e | Preclinical - Cell culture | Actionable | In a preclinical study, VX-11e inhibited ERK signaling and reduced growth of a melanoma cell line harboring BRAF V600K and MAP2K1 P124Q in culture (PMID: 25370473). | 25370473 |
BRAF V600K MAP2K1 P124Q | melanoma | sensitive | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, Mekinist (trametinib) inhibited ERK signaling and reduced growth of a melanoma cell line harboring BRAF V600K and MAP2K1 P124Q in culture (PMID: 25370473). | 25370473 |
BRAF V600E MAP2K1 P124Q | melanoma | decreased response | Dabrafenib | Preclinical - Cell culture | Actionable | In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 P124Q demonstrated decreased sensitivity to Tafinlar (dabrafenib) in cell culture (PMID: 25370473). | 25370473 |
BRAF V600E MAP2K1 P124Q | 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 P124Q in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 P124Q | 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 P124Q in culture (PMID: 36442478). | 36442478 |