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| Gene | FGFR3 |
| Variant | Y373C |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FGFR3 Y373C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). Y373C confers a gain of function to the Fgfr3 protein resulting in increased proliferation relative to wild-type Fgfr3 in a competition assay (PMID: 34272467), constitutive activation, downstream signaling (PMID: 11429702, PMID: 11157491), and transformation of cultured cells (PMID: 11429702, PMID: 11157491, PMID: 34272467). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 Y373C |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.1804372A>G |
| cDNA | c.1118A>G |
| Protein | p.Y373C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001354810.1 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_047449824.1 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| NM_000142.5 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| NM_000142.4 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_006713873 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| NM_000142 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_006713873.2 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_047449822.1 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_011513422.1 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| NM_001354809.2 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_011513420 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_011513422 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| NM_001354810.2 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_011513420.1 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_047449823.1 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_011513422.2 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| NM_001354809.1 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_011513420.2 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_006713872 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| XM_006713873.1 | chr4:g.1804372A>G | c.1118A>G | p.Y373C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR3 Y373C | gain of function | FGFR Inhibitor (Pan) FGFR3 Inhibitor |
| FGFR3 Y373C FGFR3 over exp | ||
| FGFR3 rearrange FGFR3 Y373C | ||
| FGFR3 Y373C FGFR3 N540K FGFR3 V555L FGFR3 L608V | ||
| FGFR3 Y373C FGFR3 N540K |