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| Gene | FGFR3 |
| Variant | H643D |
| Impact List | missense |
| Protein Effect | no effect |
| Gene Variant Descriptions | FGFR3 H643D lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). H643D demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR3 mutant FGFR3 H643D |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.1806141C>G |
| cDNA | c.1927C>G |
| Protein | p.H643D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006713873.1 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
| NM_000142.4 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
| XM_006713873.2 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
| XM_006713873 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
| NM_000142 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
| XM_047449824.1 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
| XM_047449823.1 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
| NM_000142.5 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR3 H643D | no effect |