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| Gene | FGFR3 |
| Variant | V630M |
| Impact List | missense |
| Protein Effect | no effect |
| Gene Variant Descriptions | FGFR3 V630M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V630M demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR3 mutant FGFR3 V630M |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.1806102G>A |
| cDNA | c.1888G>A |
| Protein | p.V630M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006713873.2 | chr4:g.1806102G>A | c.1888G>A | p.V630M | RefSeq | GRCh38/hg38 |
| NM_000142.5 | chr4:g.1806102G>A | c.1888G>A | p.V630M | RefSeq | GRCh38/hg38 |
| NM_000142 | chr4:g.1806102G>A | c.1888G>A | p.V630M | RefSeq | GRCh38/hg38 |
| XM_047449823.1 | chr4:g.1806102G>A | c.1888G>A | p.V630M | RefSeq | GRCh38/hg38 |
| XM_047449824.1 | chr4:g.1806102G>A | c.1888G>A | p.V630M | RefSeq | GRCh38/hg38 |
| NM_000142.4 | chr4:g.1806102G>A | c.1888G>A | p.V630M | RefSeq | GRCh38/hg38 |
| XM_006713873.1 | chr4:g.1806102G>A | c.1888G>A | p.V630M | RefSeq | GRCh38/hg38 |
| XM_006713873 | chr4:g.1806102G>A | c.1888G>A | p.V630M | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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