MAP2K1 G61_D65del - Gene Variant Detail

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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

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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
NM_001411065.1 chr15:g.66435193_66435207del15 c.181_195del15 p.F61_H65delFKVSH RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435128_66435142del15 c.182_196del15 p.G61_D65delGELKD RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435128_66435142del15 c.182_196del15 p.G61_D65del RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66435193_66435207del15 c.181_195del15 p.F61_H65delFKVSH RefSeq GRCh38/hg38
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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 mutant Erdheim-Chester disease sensitive Trametinib Guideline Actionable Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org). detail...
MAP2K1 mutant Erdheim-Chester disease sensitive Cobimetinib Guideline Actionable Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org). detail...