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| Gene | FGFR3 |
| Variant | R124W |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR3 R124W lies within Ig-like C2-type domain 1 of the Fgfr3 protein (UniProt.org). R124W results in increased transformation ability in cell culture (PMID: 29533785), and therefore, is predicted to lead to a gain of Fgfr3 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 R124W |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.1799514C>T |
| cDNA | c.370C>T |
| Protein | p.R124W |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006713869.2 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_000142.5 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713868.2 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713870.2 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713871.2 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_011513420 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_000142.4 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_001163213 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_011513420.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_011513422 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_001354809.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_047449821.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_001354810.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_022965.4 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_047449820.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_022965.3 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_011513420.2 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_001354809.2 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_047449824.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713873.2 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713870.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713873.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713869.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713868 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_001354810.2 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713870 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713873 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_047449822.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_011513422.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713868.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713871 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_001163213.2 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_000142 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713872 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_047449823.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_011513422.2 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713869 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_022965 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| NM_001163213.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| XM_006713871.1 | chr4:g.1799514C>T | c.370C>T | p.R124W | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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