Gene Variant Detail

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Gene MAP2K1
Variant F53C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 F53C lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). F53C results in increased Erk1/2 phosphorylation in cultured cells and has been associated with resistance to BRAF inhibitors (PMID: 30341394), and therefore, is predicted to lead to a gain of Map2k1 protein function.
Associated Drug Resistance Y

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Transcript NM_002755.3
gDNA chr15:g.66435104T>G
cDNA c.158T>G
Protein p.F53C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.2 chr15:g.66435104T>G c.158T>G p.F53C RefSeq GRCh38/hg38
NM_002755 chr15:g.66435104T>G c.158T>G p.F53C RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435104T>G c.158T>G p.F53C RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435104T>G c.158T>G p.F53C RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
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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 F53C lymphoma predicted - resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, expression of MAP2K1 F53C in a lymphoma cell line conferred resistance to inhibition of Erk phosphorylation by Zelboraf (vemurafenib) in culture (PMID: 30341394). 30341394
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org). detail...
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, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
MAP2K1 F53C gain of function - predicted