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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_000141 | 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_001320658.2 | 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_001320658 | chr10:g.121515289G>C | c.1115C>G | p.S372C | RefSeq | GRCh38/hg38 |
NM_001320658.1 | 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I | Ponatinib | Ponatinib in the Treatment of FGFR Mutation Positive Recurrent or Persistent Endometrial Carcinoma | Withdrawn | 0 |