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Gene FGFR2
Variant E475K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 E475K lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). E475K results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), but demonstrates slightly increased Fgfr2 kinase activity, and also decreases protein stability and cell proliferation in culture (PMID: 19147536), and therefore, its effect on Fgfr2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 E475K

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Transcript NM_000141.5
gDNA chr10:g.121503806C>T
cDNA c.1423G>A
Protein p.E475K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141 chr10:g.121503806C>T c.1423G>A p.E475K RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121503806C>T c.1423G>A p.E475K RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121503806C>T c.1423G>A p.E475K 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
FGFR2 E475K unknown