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| Gene | FGFR2 |
| Variant | A315S |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR2 A315S lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). A315S results in altered affinity for Fgfr ligands in in vitro assays when combined with S252L (PMID: 15282208), but has not been characterized individually and therefore, its effect on Fgfr2 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 A315S |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121517460C>A |
| cDNA | c.943G>T |
| Protein | p.A315S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144918.1 | chr10:g.121503935C>A | c.943G>T | p.A315S | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121517460C>A | c.943G>T | p.A315S | RefSeq | GRCh38/hg38 |
| NM_001144918 | chr10:g.121503935C>A | c.943G>T | p.A315S | RefSeq | GRCh38/hg38 |
| NM_001144918.2 | chr10:g.121503935C>A | c.943G>T | p.A315S | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121517460C>A | c.943G>T | p.A315S | RefSeq | GRCh38/hg38 |
| NM_001320658.1 | chr10:g.121517460C>A | c.943G>T | p.A315S | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121517460C>A | c.943G>T | p.A315S | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121517460C>A | c.943G>T | p.A315S | RefSeq | GRCh38/hg38 |
| NM_001320658 | chr10:g.121517460C>A | c.943G>T | p.A315S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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