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| Gene | FGFR2 |
| Variant | S372C |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 S372C lies within the extracellular domain of the Fgfr2 protein (PMID: 17525745). S372C (also reported as S373C) results in constitutive dimerization of the receptor (PMID: 17525745), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 S372C |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121515289G>C |
| cDNA | c.1115C>G |
| Protein | p.S372C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001320658.1 | chr10:g.121515289G>C | c.1115C>G | p.S372C | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121515289G>C | c.1115C>G | p.S372C | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121515289G>C | c.1115C>G | p.S372C | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121515289G>C | c.1115C>G | p.S372C | RefSeq | GRCh38/hg38 |
| NM_001320658 | chr10:g.121515289G>C | c.1115C>G | p.S372C | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121515289G>C | c.1115C>G | p.S372C | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT01888562 | Phase I | Ponatinib | Ponatinib in the Treatment of FGFR Mutation Positive Recurrent or Persistent Endometrial Carcinoma | Withdrawn | 0 |