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Gene | MAP2K1 |
Variant | W247* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 W247* results in a premature truncation of the Map2k1 protein at amino acid 247 of 393 (UniProt.org). W247* demonstrates slower growth than wild-type in low nutrient cell culture (PMID: 36442478), but has not been fully biochemically characterized and therefore, its effect on Map2k1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 W247* |
Transcript | NM_002755.4 |
gDNA | chr15:g.66485036G>A |
cDNA | c.740G>A |
Protein | p.W247* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66485036G>A | c.740G>A | p.W247* | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66485036G>A | c.740G>A | p.W247* | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66485036G>A | c.740G>A | p.W247* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF V600E MAP2K1 W247* | melanoma | sensitive | Cobimetinib | Preclinical - Cell culture | Actionable | In a preclinical study, Cotellic (cobimetinib) inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 W247* in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 W247* | melanoma | sensitive | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, Mekinist (trametinib) inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 W247* in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 W247* | melanoma | sensitive | Binimetinib | Preclinical - Cell culture | Actionable | In a preclinical study, Mektovi (binimetinib) inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 W247* in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 W247* | melanoma | sensitive | Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, Zelboraf (vemurafenib) inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 W247* in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 W247* | melanoma | sensitive | Dabrafenib | Preclinical - Cell culture | Actionable | In a preclinical study, Tafinlar (dabrafenib) inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 W247* in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 W247* | melanoma | sensitive | Encorafenib | Preclinical - Cell culture | Actionable | In a preclinical study, Braftovi (encorafenib) inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 W247* in culture (PMID: 36442478). | 36442478 |