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Gene FGFR2
Variant I548V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 I548V lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). I548V confers a gain of function on the Fgfr2 protein, as demonstrated by increased Fgfr2 kinase activity and enhanced cell proliferation in the presence of ligand in cell culture (PMID: 23908597).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 I548V

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Transcript NM_000141.5
gDNA chr10:g.121498525T>C
cDNA c.1642A>G
Protein p.I548V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913 chr10:g.121498528T>C c.1642A>G p.I548V RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121498528T>C c.1642A>G p.I548V RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498528T>C c.1642A>G p.I548V RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121498528T>C c.1642A>G p.I548V RefSeq GRCh38/hg38
NM_022970 chr10:g.121498528T>C c.1642A>G p.I548V RefSeq GRCh38/hg38
NM_000141 chr10:g.121498525T>C c.1642A>G p.I548V RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121498525T>C c.1642A>G p.I548V RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121498525T>C c.1642A>G p.I548V RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498528T>C c.1642A>G p.I548V 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.
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Molecular Profile Protein Effect Treatment Approaches
FGFR2 I548V gain of function FGFR Inhibitor (Pan) FGFR2 Inhibitor