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Gene | MAP2K1 |
Variant | H119Y |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 H119Y lies within the protein kinase domain of the Map2k1 protein (UniProt.org). H119Y results in increased Erk phosphorylation in cultured cells (PMID: 32641410), and therefore, is predicted to lead to a gain of Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 H119Y |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436809C>T |
cDNA | c.355C>T |
Protein | p.H119Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411 | chr15:g.66436809C>T | c.355C>T | p.H119Y | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436809C>T | c.355C>T | p.H119Y | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436809C>T | c.355C>T | p.H119Y | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436809C>T | c.355C>T | p.H119Y | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436809C>T | c.355C>T | p.H119Y | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436809C>T | c.355C>T | p.H119Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 Q56P MAP2K1 H119Y MAP2K1 D351G | colorectal cancer | predicted - sensitive | LY3214996 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, LY3214996 treatment in a colorectal cancer cell line harboring MAP2K1 Q56P, MAP2K1 H119Y, and MAP2K1 D351G led to decreased cell proliferation in culture, and inhibition of tumor growth in a cell line xenograft model (PMID: 31744895). | 31744895 |
BRAF V600E MAP2K1 H119Y | 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 H119Y in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 H119Y | 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 H119Y in culture (PMID: 36442478). | 36442478 |