Gene Variant Detail

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Gene MAP2K1
Variant V60E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 V60E does not lie within any known functional domains of the Map2k1 protein (UniProt.org). V60E results in increased Erk signaling in cultured cells and tumor formation in orthotopic mouse models (PMID: 28263969), and has been described as a drug resistance mutation (PMID: 24265153, PMID: 28263969).
Associated Drug Resistance Y

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Transcript NM_002755.3
gDNA chr15:g.66435125T>A
cDNA c.179T>A
Protein p.V60E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_002755 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022412 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435191T>A c.179T>A p.V60E RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435125T>A c.179T>A p.V60E RefSeq GRCh38/hg38

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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 V60E melanoma resistant Trametinib Preclinical Actionable In a preclinical study, a melanoma cell line expressing MAP2K1 V60E demonstrated resistance to Mekinist (trametinib) in culture (PMID: 24265153). 24265153
MAP2K1 V60E melanoma resistant Dabrafenib Preclinical Actionable In a preclinical study, a melanoma cell line expressing MAP2K1 V60E demonstrated resistance to Tafinlar (dabrafenib) in culture (PMID: 24265153). 24265153
BRAF V600E MAP2K1 V60E melanoma resistant Dabrafenib Preclinical Actionable In a preclinical study, melanoma cells harboring BRAF V600E and expressing MAP2K1 V60E demonstrated resistance to treatment with Tafinlar (dabrafenib) in culture, resulting in sustained Map2k1/2 and Erk1/2 phosphorylation (PMID: 24265153). 24265153
BRAF V600E MAP2K1 V60E melanoma sensitive VRT11E Preclinical Actionable In a preclinical study, melanoma cells harboring BRAF V600E and expressing MAP2K1 V60E demonstrated sensitivity to treatment with VRT11E, resulting in decreased cell growth in culture (PMID: 24265153). 24265153
BRAF V600X MAP2K1 V60E NRAS T58I NRAS Q61R melanoma predicted - resistant Vemurafenib Clinical Study - Cohort Actionable In a clinical study, a melanoma patient harboring a BRAF V600 mutation developed resistance-associated mutations, MAP2K1 V60E, NRAS T58I, and NRAS Q61R, after 18 weeks of treatment with Zelboraf (vemurafenib) (PMID: 24265153). 24265153
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 V60E gain of function
BRAF V600E MAP2K1 V60E
BRAF V600X MAP2K1 V60E NRAS T58I NRAS Q61R