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Gene | MAP2K1 |
Variant | L115R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 L115R lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L115R has been described as a drug resistance mutation (PMID: 19915144), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Mar 2025). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 L115R |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436798T>G |
cDNA | c.344T>G |
Protein | p.L115R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |