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Gene | MAP2K1 |
Variant | G61_D65del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 G61_D65del results in the deletion of five amino acids in the Map2k1 protein from amino acids 61 to 65 (UniProt.org). G61_D65del 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 G61_D65del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435128_66435142del15 |
cDNA | c.182_196del15 |
Protein | p.G61_D65delGELKD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.3 | chr15:g.66435128_66435142del15 | c.182_196del15 | p.G61_D65delGELKD | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66435128_66435142del15 | c.182_196del15 | p.G61_D65del | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435128_66435142del15 | c.182_196del15 | p.G61_D65delGELKD | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66435193_66435207del15 | c.181_195del15 | p.F61_H65delFKVSH | RefSeq | GRCh38/hg38 |
NM_001411065.1 | chr15:g.66435193_66435207del15 | c.181_195del15 | p.F61_H65delFKVSH | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435128_66435142del15 | c.182_196del15 | p.G61_D65del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 G61_D65del | Advanced Solid Tumor | sensitive | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 G61_D65del in culture (PMID: 36442478). | 36442478 |