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Gene | MAP2K1 |
Variant | Q56_G61delinsR |
Impact List | indel |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 Q56_G61delinsR results in a deletion of six amino acids of the Map2k1 protein from amino acids 56 to 61, combined with the insertion of an arginine (R) at the same site (UniProt.org). Q56_G61delinsR results in proliferation under low serum conditions similar to wild-type Map2k1 in a competition assay, however, is predicted to lead to a gain of Map2k1 protein function as demonstrated by increased proliferation in a competition assay in normal serum and increased transformation activity in cultured cells, and confers resistance to Mek and Braf inhibitors in the context of BRAF V600E in culture (PMID: 36442478). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 Q56_G61delinsR |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435113_66435127del15 |
cDNA | c.167_181del15 |
Protein | p.Q56_G61delinsR |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.3 | chr15:g.66435113_66435127del15 | c.167_181del15 | p.Q56_G61delinsR | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66435113_66435127del15 | c.167_181del15 | p.Q56_G61delinsR | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435113_66435127del15 | c.167_181del15 | p.Q56_G61delinsR | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435113_66435127del15 | c.167_181del15 | p.Q56_G61delinsR | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF V600E MAP2K1 Q56_G61delinsR | melanoma | resistant | Cobimetinib | Preclinical - Cell culture | Actionable | In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 Q56_G61delinsR was resistant to Cotellic (cobimetinib) in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 Q56_G61delinsR | melanoma | resistant | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 Q56_G61delinsR was resistant to Mekinist (trametinib) in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 Q56_G61delinsR | melanoma | resistant | Binimetinib | Preclinical - Cell culture | Actionable | In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 Q56_G61delinsR was resistant to Mektovi (binimetinib) in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 Q56_G61delinsR | melanoma | resistant | Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 Q56_G61delinsR was resistant to Zelboraf (vemurafenib) in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 Q56_G61delinsR | melanoma | resistant | Dabrafenib | Preclinical - Cell culture | Actionable | In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 Q56_G61delinsR was resistant to Tafinlar (dabrafenib) in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 Q56_G61delinsR | melanoma | resistant | Encorafenib | Preclinical - Cell culture | Actionable | In a preclinical study, a melanoma cell line harboring BRAF V600E and expressing MAP2K1 Q56_G61delinsR was resistant to Braftovi (encorafenib) in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 Q56_G61delinsR | melanoma | sensitive | Cobimetinib + Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) synergistically inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 Q56_G61delinsR in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 Q56_G61delinsR | melanoma | resistant | Dabrafenib + Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Tafinlar (dabrafenib) and Mekinist (trametinib) synergistically inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 Q56_G61delinsR in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 Q56_G61delinsR | melanoma | sensitive | Binimetinib + Encorafenib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Braftovi (encorafenib) and Mektovi (binimetinib) synergistically inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 Q56_G61delinsR in culture (PMID: 36442478). | 36442478 |