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Gene MAP2K1
Variant I99_K104del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 I99_K104del results in the deletion of six amino acids in the Map2k1 protein from amino acids 99 to 104 (UniProt.org). I99_K104del confers a gain of function to the Map2k1 protein as demonstrated by Raf-independent activity, increased phosphorylation of Mek and Erk (PMID: 29483135), increased proliferation in a competition assay, and increased transformation in cultured cells (PMID: 36442478).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 I99_K104del

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Transcript NM_002755.4
gDNA chr15:g.66436749_66436766del18
cDNA c.295_312del18
Protein p.I99_K104delIHLEIK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66436749_66436766del18 c.295_312del18 p.I99_K104delIHLEIK RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436749_66436766del18 c.295_312del18 p.I99_K104delIHLEIK RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436815_66436832del18 c.295_312del18 p.C99_I104delCNSPYI RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436815_66436832del18 c.295_312del18 p.C99_I104delCNSPYI RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436749_66436766del18 c.295_312del18 p.I99_K104delIHLEIK RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436815_66436832del18 c.295_312del18 p.C99_I104delCNSPYI RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436749_66436766del18 c.295_312del18 p.I99_K104delIHLEIK RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436815_66436832del18 c.295_312del18 p.C99_I104delCNSPYI RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436749_66436766del18 c.295_312del18 p.I99_K104delIHLEIK RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485119_66485136del18 c.295_312del18 p.F99_E104delFGCQVE RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66436815_66436832del18 c.295_312del18 p.C99_I104delCNSPYI RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485119_66485136del18 c.295_312del18 p.F99_E104delFGCQVE RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66436815_66436832del18 c.295_312del18 p.C99_I104delCNSPYI RefSeq GRCh38/hg38
NM_002755 chr15:g.66436749_66436766del18 c.295_312del18 p.I99_K104delIHLEIK 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 I99_K104del Advanced Solid Tumor resistant Trametinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing MAP2K1 I99_K104del were resistant to Mekinist (trametinib) in culture (PMID: 36442478). 36442478