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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 |
| 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_022970 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
| NM_001320658 | 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_000141.5 | 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_001144917.2 | 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_022970.3 | 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_001144913.1 | 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_000141.4 | 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 |
| 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 |