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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 |