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| Gene | FGFR3 |
| Variant | S679F |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR3 S679F lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). S679F has been identified in sequencing studies (PMID: 27998968), 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 S679F |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.1806551C>T |
| cDNA | c.2036C>T |
| Protein | p.S679F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047449824.1 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
| NM_000142 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
| XM_006713869 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
| XM_006713868.1 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
| XM_006713873 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
| NM_000142.4 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
| NM_000142.5 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
| XM_047449820.1 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
| XM_006713869.1 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
| XM_006713873.2 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
| XM_047449823.1 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
| XM_006713868 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
| XM_006713873.1 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
| XM_006713869.2 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
| XM_006713868.2 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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