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Gene FGFR2
Variant I288_D304del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 I288_D304del results in the deletion of 17 amino acids in Ig-like C2-type domain 3 of the Fgfr2 protein from amino acids 288 to 304 (UniProt.org). I288_D304del results in increased proliferation, migration, and invasion in cultured cells (PMID: 37964396), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 I288_D304del

FGFR2 mutant FGFR2 exon7 FGFR2 exon 7 del FGFR2 I288_D304del

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Transcript NM_000141.5
gDNA chr10:g.121520008_121520058del51
cDNA c.862_912del51
Protein p.I288_D304del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144917.2 chr10:g.121520008_121520058del51 c.862_912del51 p.I288_D304del RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121520008_121520058del51 c.862_912del51 p.I288_D304del RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121520008_121520058del51 c.862_912del51 p.I288_D304del RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121520008_121520058del51 c.862_912del51 p.I288_D304del RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520008_121520058del51 c.862_912del51 p.I288_D304del 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 I288_D304del cholangiocarcinoma no benefit Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) did not decrease viability of a cholangiocarcinoma cell line expressing FGFR2 I288_D304del in culture (PMID: 37964396). 37964396