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| Gene | FGFR1 |
| Variant | A354V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR1 A354V lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). A354V has been identified in the scientific literature (PMID: 37889382), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 A354V |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38421817G>A |
| cDNA | c.1061C>T |
| Protein | p.A354V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_023110.3 | chr8:g.38421817G>A | c.1061C>T | p.A354V | RefSeq | GRCh38/hg38 |
| NM_001174063.2 | chr8:g.38421817G>A | c.1061C>T | p.A354V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR1 A354V | esophageal carcinoma | predicted - sensitive | Pemigatinib | Case Reports/Case Series | Actionable | In a Phase I trial, Pemazyre (pemigatinib) treatment resulted in an objective response rate of 16.7% (2/12, both partial responses) and a disease control rate of 41.7% (5/12) in patients with advanced solid tumors harboring FGFR1/2/3 alterations including amplification, mutation, or fusion, including a partial response in a patient with esophageal carcinoma harboring FGFR1 A354V (PMID: 37889382; NCT04258527). | 37889382 |