Gene Variant Detail

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Gene MAP2K1
Variant I107_R108del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 I107_R108del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 107 to 108 (UniProt.org). I107_R108del results in increased Erk phosphorylation in cultured cells (PMID: 32641410), and therefore, is predicted to lead to a gain of Map2k1 protein function.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 I107_R108del

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Transcript NM_002755.4
gDNA chr15:g.66436774_66436779delTCCGGA
cDNA c.320_325delTCCGGA
Protein p.I107_R108delIR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.4 chr15:g.66436774_66436779delTCCGGA c.320_325delTCCGGA p.I107_R108delIR RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66436839_66436844delTTCTAT c.319_324delTTCTAT p.F107_Y108delFY RefSeq GRCh38/hg38
NM_002755 chr15:g.66436774_66436779delTCCGGA c.320_325delTCCGGA p.I107_R108delIR RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436839_66436844delTTCTAT c.319_324delTTCTAT p.F107_Y108delFY RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485144_66485149delCGGCTG c.320_325delCGGCTG p.A107_A108delAA RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436839_66436844delTTCTAT c.319_324delTTCTAT p.F107_Y108delFY RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66436839_66436844delTTCTAT c.319_324delTTCTAT p.F107_Y108delFY RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436839_66436844delTTCTAT c.319_324delTTCTAT p.F107_Y108delFY RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436774_66436779delTCCGGA c.320_325delTCCGGA p.I107_R108delIR RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436839_66436844delTTCTAT c.319_324delTTCTAT p.F107_Y108delFY RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436774_66436779delTCCGGA c.320_325delTCCGGA p.I107_R108delIR RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436774_66436779delTCCGGA c.320_325delTCCGGA p.I107_R108delIR RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436774_66436779delTCCGGA c.320_325delTCCGGA p.I107_R108delIR RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485144_66485149delCGGCTG c.320_325delCGGCTG p.A107_A108delAA RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Protein Effect Treatment Approaches
MAP2K1 I107_R108del gain of function - predicted MEK inhibitor (Pan) MEK1 Inhibitor