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| Gene | FGFR2 |
| Variant | E718K |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 E718K lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E718K results in decreased proliferation relative to wild-type Fgfr2 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), 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 E718K |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121485438C>T |
| cDNA | c.2152G>A |
| Protein | p.E718K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.5 | chr10:g.121485438C>T | c.2152G>A | p.E718K | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121485438C>T | c.2152G>A | p.E718K | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121485438C>T | c.2152G>A | p.E718K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR2 E718K | Advanced Solid Tumor | predicted - sensitive | Fexagratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 E718K were sensitive to treatment with Fexagratinib (AZD4547) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR2 E718K | Advanced Solid Tumor | predicted - sensitive | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 E718K were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR2 E718K | Advanced Solid Tumor | predicted - sensitive | Erdafitinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 E718K were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR2 E718K | Advanced Solid Tumor | predicted - sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 E718K were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR2 E718K | Advanced Solid Tumor | predicted - sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 E718K were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR2 E718K | Advanced Solid Tumor | predicted - sensitive | Dovitinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 E718K were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). | 34272467 |