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Gene | MAP2K1 |
Variant | S200Y |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MAP2K1 S200Y lies within the protein kinase domain of the Map2k1 protein (UniProt.org). S200Y 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 S200Y |
Transcript | NM_002755.4 |
gDNA | chr15:g.66481785C>A |
cDNA | c.599C>A |
Protein | p.S200Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66481785C>A | c.599C>A | p.S200Y | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66481785C>A | c.599C>A | p.S200Y | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66481851C>A | c.599C>A | p.S200Y | RefSeq | GRCh38/hg38 |
NM_001411065.1 | chr15:g.66485038_66485039delAGinsTA | c.598_599delAGinsTA | p.S200Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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