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 | S231L |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MAP2K1 S231L lies within the protein kinase domain of the Map2k1 protein (UniProt.org). S231L results in proliferation similar to wild-type Map2k1 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 36442478), and therefore, is predicted to have no effect on Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 S231L |
Transcript | NM_002755.4 |
gDNA | chr15:g.66481878C>T |
cDNA | c.692C>T |
Protein | p.S231L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66481878C>T | c.692C>T | p.S231L | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66481878C>T | c.692C>T | p.S231L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|