Gene Variant Detail

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Gene MAP2K1
Variant I99T
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 I99T lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I99T results in increased Erk2 phosphorylation and confers resistance to some Mek and Braf inhibitors in culture (PMID: 31925410), and therefore, is predicted to lead to a gain of Map2k1 protein function.
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 I99T

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Transcript NM_002755.4
gDNA chr15:g.66436750T>C
cDNA c.296T>C
Protein p.I99T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66436750T>C c.296T>C p.I99T RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436750T>C c.296T>C p.I99T RefSeq GRCh38/hg38
NM_002755 chr15:g.66436750T>C c.296T>C p.I99T RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436750T>C c.296T>C p.I99T RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436750T>C c.296T>C p.I99T RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436750T>C c.296T>C p.I99T RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600E MAP2K1 I99T melanoma resistant Trametinib Preclinical - Cell culture Actionable In a preclinical study, melanoma cells harboring BRAF V600E and expressing MAP2K1 I99T demonstrated resistance to Mekinist (trametinib) treatment in culture (PMID: 31925410). 31925410
BRAF V600E MAP2K1 I99T melanoma resistant Dabrafenib Preclinical - Cell culture Actionable In a preclinical study, melanoma cells harboring BRAF V600E and expressing MAP2K1 I99T demonstrated resistance to Tafinlar (dabrafenib) treatment in culture (PMID: 31925410). 31925410
BRAF V600E MAP2K1 I99T melanoma resistant CI-1040 Preclinical - Cell culture Actionable In a preclinical study, expression of MAP2K1 I99T in melanoma cells harboring BRAF V600E conferred resistance to CI-1040 (PD184352) treatment in culture (PMID: 19915144). 19915144
BRAF V600E MAP2K1 I99T melanoma resistant Selumetinib Preclinical - Cell culture Actionable In a preclinical study, expression of MAP2K1 I99T in melanoma cells harboring BRAF V600E conferred resistance to Koselugo (selumetinib) treatment in culture (PMID: 19915144). 19915144