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Gene | MAP2K1 |
Variant | L63_D67del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 L63_D67del results in the deletion of five amino acids in the Map2k1 protein from amino acids 63 to 67 (UniProt.org). L63_D67del confers a gain of function to Map2k1 as demonstrated by increased proliferation in a competition assay and increased transformation activity in cultured cells (PMID: 36442478). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 L63_D67del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435133_66435147del15 |
cDNA | c.187_201del15 |
Protein | p.L63_D67delLKDDD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.4 | chr15:g.66435133_66435147del15 | c.187_201del15 | p.L63_D67delLKDDD | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66435133_66435147del15 | c.187_201del15 | p.L63_D67delLKDDD | RefSeq | GRCh38/hg38 |
NM_001411065.1 | chr15:g.66435199_66435213del15 | c.187_201del15 | p.V63_P67delVSHKP | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66435133_66435147del15 | c.187_201del15 | p.L63_D67del | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435133_66435147del15 | c.187_201del15 | p.L63_D67del | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66435199_66435213del15 | c.187_201del15 | p.V63_P67delVSHKP | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 L63_D67del | gain of function | MEK inhibitor (Pan) MEK1 Inhibitor |
BRAF V600E MAP2K1 L63_D67del |