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| Gene | FGFR1 |
| Variant | R809Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR1 R809Q lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). R809Q results in decreased proliferation relative to wild-type Fgfr1 in a competition assay but transformation activity similar to wild-type Fgfr1 in culture (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 R809Q |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38413671C>T |
| cDNA | c.2426G>A |
| Protein | p.R809Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_023110.2 | chr8:g.38413671C>T | c.2426G>A | p.R809Q | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38413671C>T | c.2426G>A | p.R809Q | RefSeq | GRCh38/hg38 |
| XM_011544444.2 | chr8:g.38412554_38412555delGCinsAA | c.2426_2427delGCinsAA | p.R809Q | RefSeq | GRCh38/hg38 |
| XM_011544445.3 | chr8:g.38412554_38412555delGCinsAA | c.2426_2427delGCinsAA | p.R809Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR1 R809Q | unknown |