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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 | 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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 N382H | no effect - predicted | |
BRAF V600E MAP2K1 N382H |