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| Gene | FGFR1 |
| Variant | P283L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR1 P283L lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). P283L 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 Fgfr1 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 P283L |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38424597G>A |
| cDNA | c.848C>T |
| Protein | p.P283L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001174063.2 | chr8:g.38424597G>A | c.848C>T | p.P283L | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38424597G>A | c.848C>T | p.P283L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|