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| Gene | FGFR3 |
| Variant | N428S |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR3 N428S lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). N428S has been identified in sequencing studies (PMID: 32699558), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR3 mutant FGFR3 N428S |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.1804840A>G |
| cDNA | c.1283A>G |
| Protein | p.N428S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006713873.1 | chr4:g.1804840A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
| XM_047449824.1 | chr4:g.1804840A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
| XM_047449823.1 | chr4:g.1804840A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
| NM_000142.5 | chr4:g.1804840A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
| NM_022965.4 | chr4:g.1805643A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
| NM_000142.4 | chr4:g.1804840A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
| XM_006713873.2 | chr4:g.1804840A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR3 N428S | unknown |