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@jax.org
Gene | MAP2K1 |
Variant | N382H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 N382H does not lie within any known functional domains of the Map2k1 protein (UniProt.org). N382H does not lead to Erk phosphorylation in culture (PMID: 22197931), but has not been fully biochemically characterized and therefore, its effect on Map2k1 protein function is unknown. |
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_002755.4 | chr15:g.66490577A>C | c.1144A>C | p.N382H | RefSeq | GRCh38/hg38 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|