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| Gene | FGFR1 |
| Variant | G687R |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | FGFR1 G687R lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G687R results in decreased Fgfr1 expression in culture, decreased response to Fgf ligand in an in vitro assay, and decreased phosphorylation of Erk1/2 in culture (PMID: 32666525). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 inact mut FGFR1 G687R |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38414279C>T |
| cDNA | c.2059G>A |
| Protein | p.G687R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001174064 | chr8:g.38414249C>G | c.2059G>C | p.G687R | RefSeq | GRCh38/hg38 |
| NM_001174064.2 | chr8:g.38414249C>G | c.2059G>C | p.G687R | RefSeq | GRCh38/hg38 |
| NM_023110.2 | chr8:g.38414279C>T | c.2059G>A | p.G687R | RefSeq | GRCh38/hg38 |
| NM_001174064.1 | chr8:g.38414249C>G | c.2059G>C | p.G687R | RefSeq | GRCh38/hg38 |
| XM_006716303.4 | chr8:g.38414279C>T | c.2059G>A | p.G687R | RefSeq | GRCh38/hg38 |
| XM_006716303.3 | chr8:g.38414279C>T | c.2059G>A | p.G687R | RefSeq | GRCh38/hg38 |
| XM_006716304 | chr8:g.38414279C>T | c.2059G>A | p.G687R | RefSeq | GRCh38/hg38 |
| XM_017013221 | chr8:g.38414279C>T | c.2059G>A | p.G687R | RefSeq | GRCh38/hg38 |
| XM_006716304.2 | chr8:g.38414279C>T | c.2059G>A | p.G687R | RefSeq | GRCh38/hg38 |
| XM_006716303 | chr8:g.38414279C>T | c.2059G>A | p.G687R | RefSeq | GRCh38/hg38 |
| XM_017013221.1 | chr8:g.38414279C>T | c.2059G>A | p.G687R | RefSeq | GRCh38/hg38 |
| NM_023110 | chr8:g.38414279C>T | c.2059G>A | p.G687R | RefSeq | GRCh38/hg38 |
| XM_017013221.2 | chr8:g.38414279C>T | c.2059G>A | p.G687R | RefSeq | GRCh38/hg38 |
| XM_006716304.1 | chr8:g.38414279C>T | c.2059G>A | p.G687R | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38414279C>T | c.2059G>A | p.G687R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR1 G687R | loss of function |