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Gene | MAP2K1 |
Variant | A95_R96del |
Impact List | deletion |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MAP2K1 A95_R96del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 95 to 96 (UniProt.org). A95_R96del 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 A95_R96del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435229_66435234delGCCAGA |
cDNA | c.283_288delGCCAGA |
Protein | p.A95_R96delAR |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |