Gene Variant Detail

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Gene FGFR2
Variant W290_I291delinsC
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions FGFR2 W290_I291delinsC results in a deletion of tryptophan (W) at amino acid 290 and isoleucine (I) at amino acid 291 within the Ig3 region of Fgfr2, combined with the insertion of a cysteine (C) at the same site (UniProt.org). W290_I291delinsC confers a gain of function on Fgfr2, as demonstrated by ligand-independent phosphorylation, dimerization, and oncogenic transformation (PMID: 26048680).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 W290_I291delinsC

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Transcript NM_000141.4
gDNA chr10:g.121520046_121520048delATC
cDNA c.870_872delGAT
Protein p.W290_I291delinsC
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320658.1 chr10:g.121520046_121520048delATC c.870_872delGAT p.W290_I291delinsC RefSeq GRCh38/hg38
NM_001144913 chr10:g.121520046_121520048delATC c.870_872delGAT p.W290_I291delinsC RefSeq GRCh38/hg38
NM_000141 chr10:g.121520046_121520048delATC c.870_872delGAT p.W290_I291delinsC RefSeq GRCh38/hg38
NM_022970 chr10:g.121520046_121520048delATC c.870_872delGAT p.W290_I291delinsC RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520046_121520048delATC c.870_872delGAT p.W290_I291delinsC RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520046_121520048delATC c.870_872delGAT p.W290_I291delinsC RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121520046_121520048delATC c.870_872delGAT p.W290_I291delinsC RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520046_121520048delATC c.870_872delGAT p.W290_I291delinsC RefSeq GRCh38/hg38
NM_001144917 chr10:g.121520046_121520048delATC c.870_872delGAT p.W290_I291delinsC RefSeq GRCh38/hg38
NM_001320658 chr10:g.121520046_121520048delATC c.870_872delGAT p.W290_I291delinsC RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 W290_I291delinsC Advanced Solid Tumor sensitive Infigratinib Preclinical Actionable In a preclinical study, Truseltiq (infigratinib) prevented oncogenic transformation of cells expressing FGFR2 W290_I291delinsC (PMID: 26048680). 26048680
FGFR2 W290_I291delinsC Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited downstream phosphorylation of Akt and Erk1/2 in cells expressing Fgfr2 W290_I291delinsC (PMID: 26048680). 26048680