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Gene | MAP2K1 |
Variant | W247* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 W247* results in a premature truncation of the Map2k1 protein at amino acid 247 of 393 (UniProt.org). W247* demonstrates slower growth than wild-type in low nutrient cell culture (PMID: 36442478), but has not been fully biochemically characterized and therefore, its effect on Map2k1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 W247* |
Transcript | NM_002755.4 |
gDNA | chr15:g.66485036G>A |
cDNA | c.740G>A |
Protein | p.W247* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66485036G>A | c.740G>A | p.W247* | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66485036G>A | c.740G>A | p.W247* | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66485036G>A | c.740G>A | p.W247* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 W247* | unknown | |
BRAF V600E MAP2K1 W247* |