Gene Variant Detail

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Gene MAP2K1
Variant A95_R96del
Impact List deletion
Protein Effect no effect - predicted
Gene Variant Descriptions MAP2K1 A95_R96del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 95 to 96 (UniProt.org). A95_R96del induces Erk phosphorylation similar to wild-type Map2k1 in cultured cells (PMID: 32641410), and therefore, is predicted to have no effect on Map2k1 protein function.
Associated Drug Resistance

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Transcript NM_002755.3
gDNA chr15:g.66435229_66435234delGCCAGA
cDNA c.283_288delGCCAGA
Protein p.A95_R96delAR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411 chr15:g.66435229_66435234delGCCAGA c.283_288delGCCAGA p.A95_R96delAR RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435229_66435234delGCCAGA c.283_288delGCCAGA p.A95_R96delAR RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436803_66436808delGTTCTG c.283_288delGTTCTG p.V95_L96delVL RefSeq GRCh38/hg38
NM_002755 chr15:g.66435229_66435234delGCCAGA c.283_288delGCCAGA p.A95_R96delAR RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436803_66436808delGTTCTG c.283_288delGTTCTG p.V95_L96delVL RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436803_66436808delGTTCTG c.283_288delGTTCTG p.V95_L96delVL RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435229_66435234delGCCAGA c.283_288delGCCAGA p.A95_R96delAR RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485110_66485115delGAGCTG c.286_291delGAGCTG p.E96_L97delEL RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485110_66485115delGAGCTG c.286_291delGAGCTG p.E96_L97delEL RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436803_66436808delGTTCTG c.283_288delGTTCTG p.V95_L96delVL RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). 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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). detail...
Molecular Profile Protein Effect Treatment Approaches
MAP2K1 A95_R96del no effect - predicted