Gene Variant Detail

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Gene MAP2K1
Variant L235H
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MAP2K1 L235H lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L235H results in Erk phosphorylation (PMID: 32641410) and transformation activity similar to wild-type Map2k1 in culture (PMID: 36442478) and proliferation similar to wild-type in a competition assay (PMID: 36442478), and therefore, is predicted to have no effect on Map2k1 protein function.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 L235H

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Transcript NM_002755.4
gDNA chr15:g.66485000T>A
cDNA c.704T>A
Protein p.L235H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66485000T>A c.704T>A p.L235H RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66485000T>A c.704T>A p.L235H RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66485000T>A c.704T>A p.L235H 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 L235H 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 L235H in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 L235H 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 L235H in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 L235H 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 L235H in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 L235H 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 L235H in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 L235H 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 L235H in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 L235H 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 L235H in culture (PMID: 36442478). 36442478