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Gene MAP2K1
Variant V60E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 V60E does not lie within any known functional domains of the Map2k1 protein (UniProt.org). V60E confers a gain of function to Map2k1 as demonstrated by increased Erk signaling (PMID: 28263969), transformation activity in cultured cells and increased proliferation in a competition assay (PMID: 36442478), and tumor formation in orthotopic mouse models (PMID: 28263969), and demonstrates resistance to some Braf inhibitors (PMID: 24265153, PMID: 28263969, PMID: 36442478).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 V60E

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Transcript NM_002755.4
gDNA chr15:g.66435125T>A
cDNA c.179T>A
Protein p.V60E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022412 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_002755 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38

Filtering

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  • 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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Sorting

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Molecular Profile Protein Effect Treatment Approaches
MAP2K1 V60E gain of function
BRAF V600E MAP2K1 V60E
BRAF V600X MAP2K1 V60E NRAS T58I NRAS Q61R