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Gene | MAP2K1 |
Variant | H100_L101del |
Impact List | deletion |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MAP2K1 H100_L101del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 100 to 101 (UniProt.org). H100_L101del induces Erk phosphorylation similar to wild-type Map2k1 in cultured cells (PMID: 32641410), and therefore, is predicted to have no effect on Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 H100_L101del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436752_66436757delCATCTG |
cDNA | c.298_303delCATCTG |
Protein | p.H100_L101delHL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411 | chr15:g.66436752_66436757delCATCTG | c.298_303delCATCTG | p.H100_L101delHL | RefSeq | GRCh38/hg38 |
XM_011521783.3 | chr15:g.66436818_66436823delAACTCT | c.298_303delAACTCT | p.N100_S101delNS | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436752_66436757delCATCTG | c.298_303delCATCTG | p.H100_L101delHL | RefSeq | GRCh38/hg38 |
XM_017022413 | chr15:g.66485122_66485127delGGGTGC | c.298_303delGGGTGC | p.G100_C101delGC | RefSeq | GRCh38/hg38 |
XM_011521783 | chr15:g.66436818_66436823delAACTCT | c.298_303delAACTCT | p.N100_S101delNS | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436752_66436757delCATCTG | c.298_303delCATCTG | p.H100_L101delHL | RefSeq | GRCh38/hg38 |
NM_001411065.1 | chr15:g.66436818_66436823delAACTCT | c.298_303delAACTCT | p.N100_S101delNS | RefSeq | GRCh38/hg38 |
XM_017022412 | chr15:g.66436818_66436823delAACTCT | c.298_303delAACTCT | p.N100_S101delNS | RefSeq | GRCh38/hg38 |
XM_017022413.1 | chr15:g.66485122_66485127delGGGTGC | c.298_303delGGGTGC | p.G100_C101delGC | RefSeq | GRCh38/hg38 |
XM_017022412.1 | chr15:g.66436818_66436823delAACTCT | c.298_303delAACTCT | p.N100_S101delNS | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436752_66436757delCATCTG | c.298_303delCATCTG | p.H100_L101delHL | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436752_66436757delCATCTG | c.298_303delCATCTG | p.H100_L101delHL | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436752_66436757delCATCTG | c.298_303delCATCTG | p.H100_L101delHL | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66436818_66436823delAACTCT | c.298_303delAACTCT | p.N100_S101delNS | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 H100_L101del | no effect - predicted |