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MAP2K1 W247* - Gene Variant Detail

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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*

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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_002755.3 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

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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