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| Gene | FGFR2 |
| Variant | V248D |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR2 V248D lies within the extracellular domain of the Fgfr2 protein (UniProt.org). V248D is predicted to destabilize the tertiary fold of the Fgfr2 protein based on structural modeling (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 V248D |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121538597A>T |
| cDNA | c.743T>A |
| Protein | p.V248D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144917 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_001320658.1 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_001144914 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_001144917.2 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_022970 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_001144914.1 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_001144913 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_001144917.1 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_022970.3 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_001144914.1 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_001320658 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121538597A>T | c.743T>A | p.V248D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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