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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 |
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 | 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 |
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 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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