Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | MAP2K1 |
Variant | L177M |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 L177M lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L177M confers a gain of function to the Map2k1 protein as indicated by a moderate increase in basal Erk signaling, sensitivity to Raf pathway activation (PMID: 29483135), and increased Erk phosphorylation in cultured cells (PMID: 32641410). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 L177M |
Transcript | NM_002755.4 |
gDNA | chr15:g.66444668C>A |
cDNA | c.529C>A |
Protein | p.L177M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66444668C>A | c.529C>A | p.L177M | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66444668C>A | c.529C>A | p.L177M | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66444668C>A | c.529C>A | p.L177M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 L177M | Advanced Solid Tumor | predicted - sensitive | Trametinib | Preclinical - Biochemical | Actionable | In a preclinical study, Mekinist (trametinib) inhibited Erk phosphorylation in transformed cells expressing MAP2K1 L177M in culture (PMID: 32641410). | 32641410 |
MAP2K1 L177M | Advanced Solid Tumor | predicted - sensitive | SCH772984 | Preclinical - Biochemical | Actionable | In a preclinical study, SCH772984 inhibited downstream signaling in transformed cells expressing MAP2K1 L177M in culture (PMID: 32641410). | 32641410 |