Gene Variant Detail

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Gene MAP2K1
Variant I99_K104del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 I99_K104del results in the deletion of six amino acids in the Map2k1 protein from amino acids 99 to 104 (UniProt.org). I99_K104del confers a gain of function to the Map2k1 protein as demonstrated by activity, independent of Raf, and increased phosphorylation of Mek and Erk relative to wild-type Map2k1 in vitro (PMID: 29483135).
Associated Drug Resistance

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Transcript NM_002755.3
gDNA chr15:g.66436749_66436766del18
cDNA c.295_312del18
Protein p.I99_K104delIHLEIK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66436749_66436766del18 c.295_312del18 p.I99_K104delIHLEIK RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485119_66485136del18 c.295_312del18 p.F99_E104delFGCQVE RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436749_66436766del18 c.295_312del18 p.I99_K104delIHLEIK RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436815_66436832del18 c.295_312del18 p.C99_I104delCNSPYI RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436749_66436766del18 c.295_312del18 p.I99_K104delIHLEIK RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436749_66436766del18 c.295_312del18 p.I99_K104delIHLEIK RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485119_66485136del18 c.295_312del18 p.F99_E104delFGCQVE RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436815_66436832del18 c.295_312del18 p.C99_I104delCNSPYI RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436815_66436832del18 c.295_312del18 p.C99_I104delCNSPYI RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436815_66436832del18 c.295_312del18 p.C99_I104delCNSPYI 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 I99_K104del gain of function