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 | Q58* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MAP2K1 Q58* results in a premature truncation of the Map2k1 protein at amino acid 58 of 393 (UniProt.org). Q58* results in proliferation similar to wild-type Map2k1 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 36442478), however, due to the loss of the protein kinase domain (UniProt.org), is predicted to lead to a loss of Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 inact mut MAP2K1 Q58* |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435118C>T |
cDNA | c.172C>T |
Protein | p.Q58* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66435118C>T | c.172C>T | p.Q58* | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66435118C>T | c.172C>T | p.Q58* | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435118C>T | c.172C>T | p.Q58* | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435118C>T | c.172C>T | p.Q58* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|