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Gene MAP2K1
Variant Y130C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MAP2K1 Y130C lies within the protein kinase domain of the Map2k1 protein (UniProt.org). Y130C demonstrates a phosphorylation profile similar to wild-type Map2k1 (PMID: 29753091), but in another study results in increased Erk phosphorylation in cell culture (PMID: 16439621, PMID: 18060073, PMID: 17981815, PMID: 31972311), and elevated cell cycle progression and colony formation compared to wild-type Map2k1 (PMID: 31972311), and therefore, its effect on Map2k1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 Y130C

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Transcript NM_002755.4
gDNA chr15:g.66436843A>G
cDNA c.389A>G
Protein p.Y130C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66436843A>G c.389A>G p.Y130C RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436843A>G c.389A>G p.Y130C RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436843A>G c.389A>G p.Y130C RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436843A>G c.389A>G p.Y130C RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436843A>G c.389A>G p.Y130C RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436843A>G c.389A>G p.Y130C RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References