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| Gene | FGFR3 |
| Variant | R416C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR3 R416C lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). R416C does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR3 mutant FGFR3 R416C |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.1804500C>T |
| cDNA | c.1246C>T |
| Protein | p.R416C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011513420.2 | chr4:g.1804500C>T | c.1246C>T | p.R416C | RefSeq | GRCh38/hg38 |
| XM_011513422.2 | chr4:g.1804500C>T | c.1246C>T | p.R416C | RefSeq | GRCh38/hg38 |
| XM_006713873.2 | chr4:g.1804500C>T | c.1246C>T | p.R416C | RefSeq | GRCh38/hg38 |
| XM_047449824.1 | chr4:g.1804500C>T | c.1246C>T | p.R416C | RefSeq | GRCh38/hg38 |
| NM_000142.5 | chr4:g.1804500C>T | c.1246C>T | p.R416C | RefSeq | GRCh38/hg38 |
| XM_047449823.1 | chr4:g.1804500C>T | c.1246C>T | p.R416C | RefSeq | GRCh38/hg38 |
| NM_001354809.2 | chr4:g.1804500C>T | c.1246C>T | p.R416C | RefSeq | GRCh38/hg38 |
| NM_001354810.2 | chr4:g.1804500C>T | c.1246C>T | p.R416C | RefSeq | GRCh38/hg38 |
| XM_047449822.1 | chr4:g.1804500C>T | c.1246C>T | p.R416C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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