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| Gene | FGFR2 |
| Variant | C278F |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR2 C278F lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). C278F results in increased Fgfr2 dimerization and autophosphorylation, however, also leads to rapid Fgfr2 degradation (PMID: 16844695), impaired Erk and Tgf-beta signaling, and decreased cell viability in culture (PMID: 20004243), and therefore, its effect on Fgfr2 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 exon7 FGFR2 C278F |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121520085C>A |
| cDNA | c.833G>T |
| Protein | p.C278F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.4 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_022970 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_022970.3 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_001144914.1 | chr10:g.121515235C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_001320658.1 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_001144914.1 | chr10:g.121515235C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_001144913 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_001144914 | chr10:g.121515235C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_001144917.1 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_001320658 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_001144917 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_001144917.2 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121520085C>A | c.833G>T | p.C278F | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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