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Gene MAP2K1
Variant Y130H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MAP2K1 Y130H lies within the protein kinase domain of the Map2k1 protein (UniProt.org). Y130H results in autophosphorylation levels similar to wild-type Map2k1 in an in vitro assay (PMID: 29753091), but leads to increased Erk phosphorylation in cultured cells in another study (PMID: 32641410), and therefore, its effect on Map2k1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 Y130H

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Transcript NM_002755.4
gDNA chr15:g.66436842T>C
cDNA c.388T>C
Protein p.Y130H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66436842T>C c.388T>C p.Y130H RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436842T>C c.388T>C p.Y130H RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436842T>C c.388T>C p.Y130H RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436842T>C c.388T>C p.Y130H RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436842T>C c.388T>C p.Y130H RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436842T>C c.388T>C p.Y130H RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References