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| Gene | MAP2K1 |
| Variant | N382H |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | MAP2K1 N382H does not lie within any known functional domains of the Map2k1 protein (UniProt.org). N382H does not induce Erk phosphorylation in cultured cells (PMID: 22197931) and results in slower cell proliferation compared to wild-type Map2k1 in culture (PMID: 36442478), and therefore, is predicted to have no effect on Map2k1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 N382H |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66490577A>C |
| cDNA | c.1144A>C |
| Protein | p.N382H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002755.3 | chr15:g.66490577A>C | c.1144A>C | p.N382H | RefSeq | GRCh38/hg38 |
| NM_002755.4 | chr15:g.66490577A>C | c.1144A>C | p.N382H | RefSeq | GRCh38/hg38 |
| NM_002755 | chr15:g.66490577A>C | c.1144A>C | p.N382H | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|