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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 |
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 |
---|---|---|---|---|---|
XM_011521783.3 | chr15:g.66436839_66436844delTTCTAT | c.319_324delTTCTAT | p.F107_Y108delFY | RefSeq | GRCh38/hg38 |
XM_017022412.1 | chr15:g.66436839_66436844delTTCTAT | c.319_324delTTCTAT | p.F107_Y108delFY | RefSeq | GRCh38/hg38 |
XM_017022412 | 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 |
NM_001411065.1 | 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_002755.4 | 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_017022411.3 | 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 |
XM_011521783.4 | 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_017022413 | chr15:g.66485144_66485149delCGGCTG | c.320_325delCGGCTG | p.A107_A108delAA | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436774_66436779delTCCGGA | c.320_325delTCCGGA | p.I107_R108delIR | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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