Gene Variant Detail

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Gene FGFR2
Variant S267_D273dup
Impact List duplication
Protein Effect gain of function
Gene Variant Descriptions FGFR2 S267_D273dup (also referred to as A266_S267insSTVVGGD) indicates the insertion of seven duplicate amino acids, serine (S)-267 through aspartic acid (D)-273, in Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). S267_D273dup confers a gain of function on Fgfr2 as demonstrated by ligand-independent phosphorylation, dimerization, and oncogenic cell transformation (PMID: 26048680).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 S267_D273dup

FGFR2 mutant FGFR2 exon7 FGFR2 S267_D273dup

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Transcript NM_000141.5
gDNA chr10:g.121520099_121520119
cDNA c.799_819
Protein p.S267_D273
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320658 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_001144913 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_001144917 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_000141 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_022970 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520099_121520119 c.799_819 p.S267_D273 RefSeq GRCh38/hg38

Filtering

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  • 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 S267_D273dup Advanced Solid Tumor sensitive Infigratinib Preclinical Actionable In a preclinical study, Truseltiq (infigratinib) prevented oncogenic transformation of cells expressing FGFR2 S267_D273dup (PMID: 26048680). 26048680
FGFR2 S267_D273dup 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 S267_D273dup (PMID: 26048680). 26048680