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Gene FGFR2
Variant I547V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 I547V lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). I547V results in elevated kinase activity compared to wild-type Fgfr2 protein in substrate phosphorylation assays (PMID: 28166054, PMID: 31959966) in cultured cells.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 I547V

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Transcript NM_000141.5
gDNA chr10:g.121498528T>C
cDNA c.1639A>G
Protein p.I547V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141 chr10:g.121498528T>C c.1639A>G p.I547V RefSeq GRCh38/hg38
XM_024447891.2 chr10:g.121488053T>C c.1639A>G p.I547V RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121498528T>C c.1639A>G p.I547V RefSeq GRCh38/hg38
XM_006717712 chr10:g.121488053T>C c.1639A>G p.I547V RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121498528T>C c.1639A>G p.I547V RefSeq GRCh38/hg38
XM_024447891.1 chr10:g.121488053T>C c.1639A>G p.I547V 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 I547V gain of function FGFR Inhibitor (Pan) FGFR2 Inhibitor