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| Gene | FGFR1 |
| Variant | D218N |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | FGFR1 D218N lies within Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). D218N results in increased serum dependency for growth in culture (PMID: 40526877), and therefore, is predicted to lead to a loss of Fgfr1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 inact mut FGFR1 D218N |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38426215C>T |
| cDNA | c.652G>A |
| Protein | p.D218N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_023110.3 | chr8:g.38426215C>T | c.652G>A | p.D218N | RefSeq | GRCh38/hg38 |
| NM_001174063.2 | chr8:g.38426215C>T | c.652G>A | p.D218N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|