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| Gene | FGFR2 |
| Variant | I288_E295delinsT |
| Impact List | indel |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR2 I288_E295delinsT results in deletion of eight amino acids in Ig-like C2-type domain 3 of the Fgfr2 protein from amino acids 288 to 295, combined with the insertion of a threonine (T) at the same location (UniProt.org). I288_E295delinsT has been identified in the scientific literature (PMID: 33926920), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 exon7 FGFR2 exon 7 del FGFR2 I288_E295delinsT |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121520033_121520056delinsTGT |
| cDNA | c.862_885delinsACA |
| Protein | p.I288_E295delinsT |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144913.1 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
| NM_022970.3 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
| NM_001144917.1 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
| NM_001144917.2 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
| NM_001320658.1 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR2 I288_E295delinsT | intrahepatic cholangiocarcinoma | predicted - sensitive | Zoligratinib | Case Reports/Case Series | Actionable | In a clinical case study, Debio 1347 treatment in an intrahepatic cholangiocarcinoma patient harboring FGFR2 I288_E295delinsT led to a partial response with a 50% decrease in tumor burden, which was ongoing after 24 months (PMID: 33926920). | 33926920 |