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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
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 Q56_V60del

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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_017022413.1 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
XM_017022412 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_017022411.2 chr15:g.66435112_66435126del15 c.166_180del15 p.Q56_V60delQKQKV RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435112_66435126del15 c.166_180del15 p.Q56_V60delQKQKV RefSeq GRCh38/hg38
XM_017022413 chr15:g.66484990_66485004del15 c.166_180del15 p.P56_Q60delPERLQ RefSeq GRCh38/hg38
NM_002755.3 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
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