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Gene | MAP2K1 |
Variant | Y130N |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MAP2K1 Y130N lies within the protein kinase domain of the Map2k1 protein (UniProt.org). Y130N has been demonstrated to result in autophosphorylation levels similar to wild-type Map2k1 in an in vitro assay (PMID: 29753091), and therefore, is predicted to have no effect on Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 Y130N |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436842T>A |
cDNA | c.388T>A |
Protein | p.Y130N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.2 | chr15:g.66436842T>A | c.388T>A | p.Y130N | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436842T>A | c.388T>A | p.Y130N | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436842T>A | c.388T>A | p.Y130N | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436842T>A | c.388T>A | p.Y130N | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436842T>A | c.388T>A | p.Y130N | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436842T>A | c.388T>A | p.Y130N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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