Gene Variant Detail

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Gene MAP2K1
Variant L101_E102del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 L101_E102del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 101 to 102 (UniProt.org). L101_E102del results in increased Erk phosphorylation in cultured cells (PMID: 32641410), and therefore, is predicted to result in a gain of Map2k1 protein function.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 L101_E102del

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Transcript NM_002755.3
gDNA chr15:g.66436755_66436760delCTGGAG
cDNA c.301_306delCTGGAG
Protein p.L101_E102delLE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66436755_66436760delCTGGAG c.301_306delCTGGAG p.L101_E102delLE RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485125_66485130delTGCCAG c.301_306delTGCCAG p.C101_Q102delCQ RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436822_66436827delCTCCGT c.302_307delCTCCGT p.S101_P102delSP RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436755_66436760delCTGGAG c.301_306delCTGGAG p.L101_E102delLE RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436822_66436827delCTCCGT c.302_307delCTCCGT p.S101_P102delSP RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436822_66436827delCTCCGT c.302_307delCTCCGT p.S101_P102delSP RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436755_66436760delCTGGAG c.301_306delCTGGAG p.L101_E102delLE RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436822_66436827delCTCCGT c.302_307delCTCCGT p.S101_P102delSP RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436755_66436760delCTGGAG c.301_306delCTGGAG p.L101_E102delLE RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485125_66485130delTGCCAG c.301_306delTGCCAG p.C101_Q102delCQ RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References