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MAP2K1 R49L - Gene Variant Detail

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Gene MAP2K1
Variant R49L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 R49L lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). R49L confers a gain of function to the Map2k1 protein as demonstrated by transforming ability in culture and in vivo, and phosphorylation of Erk1/2 (PMID: 22327936).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 R49L

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Transcript NM_002755.4
gDNA chr15:g.66435092G>T
cDNA c.146G>T
Protein p.R49L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66435092G>T c.146G>T p.R49L RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435092G>T c.146G>T p.R49L RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435092G>T c.146G>T p.R49L RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435092G>T c.146G>T p.R49L RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435092G>T c.146G>T p.R49L RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435092G>T c.146G>T p.R49L 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 R49L Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 R49L in culture (PMID: 36442478). 36442478