Gene Variant Detail

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Gene MAP2K1
Variant Q56_V60del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 Q56_V60del results in the deletion of five amino acids in the protein kinase domain of the Map2k1 protein from amino acids 56 to 60 (UniProt.org). Q56_V60del confers a gain of function to the Map2k1 protein as indicated by transformation capabilities and increased phosphorylation of Erk and S6k in culture (PMID: 26324360).
Associated Drug Resistance

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Transcript NM_002755.3
gDNA chr15:g.66435112_66435126del15
cDNA c.166_180del15
Protein p.Q56_V60delQKQKV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022412 chr15:g.66435178_66435192del15 c.166_180del15 p.N56_V60delNGGVV RefSeq GRCh38/hg38
XM_017022413 chr15:g.66484990_66485004del15 c.166_180del15 p.P56_Q60delPERLQ RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435178_66435192del15 c.166_180del15 p.N56_V60delNGGVV RefSeq GRCh38/hg38
NM_002755 chr15:g.66435112_66435126del15 c.166_180del15 p.Q56_V60delQKQKV RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66484990_66485004del15 c.166_180del15 p.P56_Q60delPERLQ RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435112_66435126del15 c.166_180del15 p.Q56_V60delQKQKV RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435112_66435126del15 c.166_180del15 p.Q56_V60delQKQKV RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435178_66435192del15 c.166_180del15 p.N56_V60delNGGVV RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435112_66435126del15 c.166_180del15 p.Q56_V60delQKQKV RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66435178_66435192del15 c.166_180del15 p.N56_V60delNGGVV RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 Q56_V60del ovarian serous carcinoma predicted - sensitive Selumetinib Case Reports/Case Series Actionable In a Phase II trial, Koselugo (selumetinib) treatment resulted in a complete response that lasted over 5 years with continuous treatment in a patient with serous ovarian cancer harboring MAP2K1 Q56_V60del (PMID: 26324360). 26324360
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 Q56_V60del gain of function MEK inhibitor (Pan) MEK1 Inhibitor