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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 activity, independent of Raf, and increased phosphorylation of Mek and Erk relative to wild-type Map2k1 in vitro (PMID: 29483135). |
Associated Drug Resistance |
Transcript | NM_002755.3 |
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 | 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_017022411.2 | 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 |
NM_002755.3 | chr15:g.66436749_66436766del18 | c.295_312del18 | p.I99_K104delIHLEIK | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436749_66436766del18 | c.295_312del18 | p.I99_K104delIHLEIK | RefSeq | GRCh38/hg38 |
XM_017022413 | chr15:g.66485119_66485136del18 | c.295_312del18 | p.F99_E104delFGCQVE | RefSeq | GRCh38/hg38 |
XM_011521783.3 | 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_017022412.1 | chr15:g.66436815_66436832del18 | c.295_312del18 | p.C99_I104delCNSPYI | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 I99_K104del | gain of function |