Gene Variant Detail

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Gene MAP2K1
Variant P105_A106del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 P105_A106del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 105 to 106 (UniProt.org). P105_A106del results in increased phosphorylation of Mek and Erk relative to wild-type Map2k1 in cell culture (PMID: 30377225).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 P105_A106del

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Transcript NM_002755.4
gDNA chr15:g.66436767_66436772delCCCGCA
cDNA c.313_318delCCCGCA
Protein p.P105_A106delPA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411 chr15:g.66436767_66436772delCCCGCA c.313_318delCCCGCA p.P105_A106delPA RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436767_66436772delCCCGCA c.313_318delCCCGCA p.P105_A106delPA RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436767_66436772delCCCGCA c.313_318delCCCGCA p.P105_A106delPA RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436767_66436772delCCCGCA c.313_318delCCCGCA p.P105_A106delPA RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66436833_66436838delGTGGGC c.313_318delGTGGGC p.V105_G106delVG RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436833_66436838delGTGGGC c.313_318delGTGGGC p.V105_G106delVG RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485138_66485143delGAGATG c.314_319delGAGATG p.G105_D106delGD RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436767_66436772delCCCGCA c.313_318delCCCGCA p.P105_A106delPA RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436833_66436838delGTGGGC c.313_318delGTGGGC p.V105_G106delVG RefSeq GRCh38/hg38
NM_002755 chr15:g.66436767_66436772delCCCGCA c.313_318delCCCGCA p.P105_A106delPA RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436833_66436838delGTGGGC c.313_318delGTGGGC p.V105_G106delVG RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436833_66436838delGTGGGC c.313_318delGTGGGC p.V105_G106delVG RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485138_66485143delGAGATG c.314_319delGAGATG p.G105_D106delGD RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66436833_66436838delGTGGGC c.313_318delGTGGGC p.V105_G106delVG 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 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...
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...