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Gene | MAP2K1 |
Variant | I111N |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 I111N lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I111N is predicted to confer a gain of function to the Map2k1 protein as demonstrated by increased Map2k1 kinase activity in an in-vitro assay and is also associated with resistance to inhibitors (PMID: 12370306). |
Associated Drug Resistance | Y |
Transcript | NM_002755.3 |
gDNA | chr15:g.66436786T>A |
cDNA | c.332T>A |
Protein | p.I111N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66436786T>A | c.332T>A | p.I111N | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436786T>A | c.332T>A | p.I111N | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436786T>A | c.332T>A | p.I111N | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436786T>A | c.332T>A | p.I111N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF V600E MAP2K1 I111N | melanoma | sensitive | Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, Zelboraf (vemurafenib) inhibited proliferation of melanoma cells harboring BRAF V600E and expressing MAP2K1 I111N in culture (PMID: 28655712). | 28655712 |
BRAF V600E MAP2K1 I111N | melanoma | resistant | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, melanoma cells harboring BRAF V600E and expressing MAP2K1 I111N demonstrated resistance to treatment with Mekinist (trametinib) in culture (PMID: 28655712). | 28655712 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 I111N | gain of function - predicted | |
BRAF V600E MAP2K1 I111N |