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MAP2K1 Q56P - Gene Variant Detail

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Gene MAP2K1
Variant Q56P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 Q56P does not lie within any known functional domains of the Map2k1 protein (UniProt.org). Q56P confers a gain of function to the Map2k1 protein as indicated by increased kinase activity and the ability to transform cultured cells (PMID: 7651428, PMID: 22327936, PMID: 25351745) and increased proliferation in a competition assay (PMID: 36442478), and demonstrates resistance to some Mek and Braf inhibitors (PMID: 29753091).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 Q56P

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Transcript NM_002755.4
gDNA chr15:g.66435113A>C
cDNA c.167A>C
Protein p.Q56P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411 chr15:g.66435113A>C c.167A>C p.Q56P RefSeq GRCh38/hg38
NM_002755 chr15:g.66435113A>C c.167A>C p.Q56P RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435113A>C c.167A>C p.Q56P RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435113A>C c.167A>C p.Q56P RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435113A>C c.167A>C p.Q56P RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435113A>C c.167A>C p.Q56P RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600E MAP2K1 Q56P melanoma resistant Selumetinib Preclinical - Cell culture Actionable In a preclinical study, expression of MAP2K1 Q56P in melanoma cells harboring BRAF V600E conferred resistance to Koselugo (selumetinib) treatment in culture (PMID: 19915144). 19915144
BRAF V600E MAP2K1 Q56P melanoma resistant PLX4720 Preclinical Actionable In a preclinical study, expression of MAP2K1 Q56P in melanoma cells harboring BRAF V600E conferred resistance to PLX4720 treatment in culture (PMID: 19915144). 19915144
BRAF V600E MAP2K1 Q56P melanoma resistant Dabrafenib Preclinical Actionable In a preclinical study, melanoma cell lines harboring BRAF V600E expressing MAP2K1 Q56P were resistant to Tafinlar (dabrafenib) mediated growth inhibition and retained MEK and ERK signaling in culture (PMID: 22389471). 22389471
BRAF V600E MAP2K1 Q56P melanoma conflicting Trametinib Preclinical Actionable In a preclinical study, human melanoma cell lines harboring BRAF V600E expressing MAP2K1 Q56P displayed reduced sensitivity to Mekinist (trametinib) mediated growth inhibition and retained MEK and ERK signaling (PMID: 22389471). 22389471
BRAF V600E MAP2K1 Q56P melanoma conflicting Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited growth of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 Q56P in culture (PMID: 28986383). 28986383
BRAF V600E MAP2K1 Q56P melanoma conflicting Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 Q56P in culture (PMID: 36442478). 36442478
BRAF V600E MAP2K1 Q56P melanoma sensitive Dabrafenib + Trametinib Preclinical Actionable In a preclinical study, the combination of Talfinlar (dabrafenib) and Mekinist (trametinib) resulted in improved growth inhibition in melanoma cells harboring BRAF V600E and expressing MAP2K1 Q56P in culture (PMID: 22389471). 22389471
BRAF V600E MAP2K1 Q56P melanoma resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 Q56P was resistant to Zelboraf (vemurafenib) in culture (PMID: 28986383). 28986383
BRAF V600E MAP2K1 Q56P melanoma resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, melanoma cells harboring BRAF V600E and expressing MAP2K1 Q56P demonstrated resistance to treatment with Zelboraf (vemurafenib) in culture (PMID: 28655712). 28655712
BRAF V600E MAP2K1 Q56P melanoma sensitive Ulixertinib Preclinical - Cell culture Actionable In a preclinical study, Ulixertinib (BVD-523) inhibited proliferation of melanoma cells harboring BRAF V600E and expressing MAP2K1 Q56P in culture (PMID: 28655712). 28655712
BRAF V600E MAP2K1 Q56P NRAS Q61R melanoma sensitive AZD0364 Preclinical - Cell line xenograft Actionable In a preclinical study, AZD0364 (ATG-017) decreased phosphorylation of Erk target genes and increased expression of apoptosis markers in melanoma cells harboring BRAF V600E, MAP2K1 Q56P, and NRAS Q61R in culture, and inhibited tumor growth in cell line xenograft models (PMID: 33273059). 33273059
MAP2K1 Q56P MAP2K1 H119Y MAP2K1 D351G colorectal cancer predicted - sensitive LY3214996 Preclinical - Cell line xenograft Actionable In a preclinical study, LY3214996 treatment in a colorectal cancer cell line harboring MAP2K1 Q56P, MAP2K1 H119Y, and MAP2K1 D351G led to decreased cell proliferation in culture, and inhibition of tumor growth in a cell line xenograft model (PMID: 31744895). 31744895