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Gene | MAP2K1 |
Variant | P264L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 P264L lies within the protein kinase domain of the Map2k1 protein (UniProt.org). P264L has been demonstrated to confer resistance to Raf inhibitors in the context of BRAF V600E in culture (PMID: 28986383), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 P264L |
Transcript | NM_002755.4 |
gDNA | chr15:g.66485087C>T |
cDNA | c.791C>T |
Protein | p.P264L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.4 | chr15:g.66485087C>T | c.791C>T | p.P264L | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66485087C>T | c.791C>T | p.P264L | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66485165C>T | c.791C>T | p.P264L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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