Gene Variant Detail

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Gene MAP2K1
Variant R47Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 R47Q lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). R47Q results in increased phosphorylation of Erk and is transforming in cell culture (PMID: 22327936).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 R47Q

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Transcript NM_002755.4
gDNA chr15:g.66435086G>A
cDNA c.140G>A
Protein p.R47Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66435086G>A c.140G>A p.R47Q RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435086G>A c.140G>A p.R47Q RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435086G>A c.140G>A p.R47Q RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435086G>A c.140G>A p.R47Q RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435086G>A c.140G>A p.R47Q RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435086G>A c.140G>A p.R47Q 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 Protein Effect Treatment Approaches
MAP2K1 R47Q gain of function MEK inhibitor (Pan) MEK1 Inhibitor
BRAF V600E MAP2K1 R47Q