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 | V60M |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | MAP2K1 V60M does not lie within any known functional domains of the Map2k1 protein (UniProt.org). V60M confers a gain of function to the Map2k1 protein as demonstrated by increased Mek and Erk phosphorylation relative to wild-type Map2k1 (PMID: 26566875). |
| Associated Drug Resistance | |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 V60M |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66435124G>A |
| cDNA | c.178G>A |
| Protein | p.V60M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002755.4 | chr15:g.66435124G>A | c.178G>A | p.V60M | RefSeq | GRCh38/hg38 |
| XM_011521783.3 | chr15:g.66435190G>A | c.178G>A | p.V60M | RefSeq | GRCh38/hg38 |
| XM_017022412 | chr15:g.66435190G>A | c.178G>A | p.V60M | RefSeq | GRCh38/hg38 |
| XM_017022411.3 | chr15:g.66435124G>A | c.178G>A | p.V60M | RefSeq | GRCh38/hg38 |
| XM_011521783.4 | chr15:g.66435190G>A | c.178G>A | p.V60M | RefSeq | GRCh38/hg38 |
| NM_001411065.1 | chr15:g.66435190G>A | c.178G>A | p.V60M | RefSeq | GRCh38/hg38 |
| NM_002755 | chr15:g.66435124G>A | c.178G>A | p.V60M | RefSeq | GRCh38/hg38 |
| NM_002755.3 | chr15:g.66435124G>A | c.178G>A | p.V60M | RefSeq | GRCh38/hg38 |
| XM_017022411.2 | chr15:g.66435124G>A | c.178G>A | p.V60M | RefSeq | GRCh38/hg38 |
| XM_017022412.1 | chr15:g.66435190G>A | c.178G>A | p.V60M | RefSeq | GRCh38/hg38 |
| XM_017022411 | chr15:g.66435124G>A | c.178G>A | p.V60M | RefSeq | GRCh38/hg38 |
| XM_011521783 | chr15:g.66435190G>A | c.178G>A | p.V60M | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|